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kiokeemastiffs1

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   Since inquiring minds want to know--I e-mailed an inquiry to UPenn last week asking a few question about the current research and status r/t a DNA test for Cystinuria in Mastiffs.  Here is the response I got back from Dr. Giger.  My orginal inquiry is at the bottom.   

I would like to hear the thoughts and input from some of my fellow breeders and owners.   Catie


From:                                         Urs Giger [giger@vet.upenn.edu]

Sent:                                           Monday, October 20, 2008 5:03 PM

To:                                               Arney, Catie

Subject:                                     Re: Developing a DNA Test for Cystinuria in Mastiffs

 


Dear Catie,

thank you for your email with your suggestions and kind offers to help us with our research studies on cystinuria. 

The School of Veterinary Medicine at the University of Pennsylvania has a longstanding history of characterizing cystinuria in dogs and other species. Based upon one of my cystinuric patients nearly two decades ago we begun studying the mode of inheritance, type of renal defect, its molecular basis and prevalence of cystinuria in Newfoundlands.  The discovery of the most severe type of cystinuria in dogs, an autosomal recessive mode, and the specific molecular defect in a renal basic amino acid transporter led to the development of a DNA screening test showing the initially common occurrence of cystinuric Newfoundlands and now its reduced prevalence thanks to international screening programs. 

Our studies on cystinuria were expanded about a decade ago when we recognized that Mastiffs and some related and many other (e.g. Irish Terriers, Bassets, Dachshunds) breeds also had frequently cystinuria. Interesting these dogs seem to have a milder form of cystinuria, and only males developed calculi at mid to older age if ever. This cannot be completely explained by an x-chromosomal or autosomal recessive mode of inheritance or sex limited expression.  Moreover, the genetic analysis of the known proteins involved in renal transport also did not reveal a specific simple defect.  Hence, we are continuing to search for the molecular basis of cystinuria in Mastiffs and other breeds including tools such as SNP analyses and genome scans.

Despite having not yet succeeded we have not given up and feel we are closer than ever to elucidate this defect and offer a DNA test for cystinuria in Mastiffs in the near future.  Currently we are offering a urine screen that can detect animals at risk to develop cystine calculi.  We have several informative families, pursuing some avenues of molecular studies and also have received some support from the Canine Health Foundation.  Your offer to get samples from a family with a dam known to have produced cystinuric (or stone forming?) offspring and crossings between closely related animals may certainly be helpful.  Also definitely so-called clear families can be of great help as it is difficult to clear anyone definitively.  We have information on the Mastiff and our PennGen web site regarding sample submissions, informed consent, and confidentiality.  Moreover, additional cases or other means of support directly from you would also be appreciated. 

I will share your information with my colleagues Dr. Paula Henthorn, Junlong Lui and Angie Erat who have been working feverishly on cystinuria.  We are looking forward to hearing from you.

Kind regards
Urs Giger


 
Urs Giger, PD Dr. med. vet. MS FVH
Dipl. ACVIM and ECVIM (Internal Medicine) and ECVCP (Clinical Pathology)
Charlotte Newton Sheppard Professor of Medicine
 
School of Veterinary Medicine at the University of Pennsylvania
3900 Delancey Street, Philadelphia, PA 19104-6010
phone   215 898 8830; fax  215 573 2162
giger@vet.upenn.edu; penngen@vet.upenn.edu; http://www.vet.upenn.edu/penngen



Arney, Catie wrote:

  I have a very basic question.  IF you started with a group of Mastiffs bred from a know carrier bitch (one who had produced positive sons) and bred her to a positive male (maybe her son)—you would produce a litter that would most certainly have mostly female carriers (all) and ½ positive and non-affected sons males;  could you derive a DNA test from this group of dogs If or would you also need a group of “clear dogs” to compare it?

 

I believe we can find several males who are produced from 2-3 “tested” generations from “clear males”—so they would possible be “clear dogs.

 

I ask this question because I know the DNA test for long hair was based on such a study group-a long hair sire bred to two different bitches ( a mother & daughter)—total of 18 puppies with 2 LH produced.  As it turned out the Older dam was clear and her daughter was a carrier for the gene.  Other dogs and bitches that had produced or were LH were also included in this study group.  Yet, it was the two breedings I spoke of above that help the most because of the tight genetic lines.

 

I guess, the most important questions for the moment are; Is UPenn ready and willing to try and develop such a test?  Do you have the research information/dog data you need?  If not, what do you need?  Is funding the hold back? Is UPenn interested in developing such a test for Mastiffs?

 

Many of us in the Mastiff community consider this health issue a major concern and we want and need a DNA test now before too many of our dogs become unknown carriers.  This subject is a major discussion in all Mastiff circles.

 

I know you are a very busy individual. As a breeder, I am very appreciative of your work and efforts.  Many of us would step up to plate and assist your study and research in any way we could if we are asked.   I, personally, and many others in Mastiff Community would gladly step up to the plate to assist you.  Just ask.

 

Cathy (Catie) C. Arney RN MSN

Kiokee Mastiffs

Hickory, NC

 
 

 
 
 

This e-mail is intended for the use of the addressee(s) only and may contain privileged, confidential, or proprietary information that is exempt from disclosure under law. If you have received this message in error, please inform us promptly by reply e-mail, then delete the e-mail and destroy any printed copy. Thank you.

 
 

 
 
 
  

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I am very happy you got a response! I emailed Dr. Paula Henthorn  twice and never got a response.  The response is veg to say the least. I would like to know what they are truly doing? What they have been doing the last 10 years and why cant they even come up with a better test than the one we have now. I would also like to know why the Upenn Web site has not been updated in 5 years. They are getting money from us and from CHF and I am not sure what they are doing with it.


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Reply with quote  #3 
  At least she answered me--but she really did not give me any solid concrete answers to my questions.  The vague reference to funding leads me to believe money is the reason we don't have a test.  She certainly didn't have any problems pimping out their testing services.

Newfies were made a priority because of a more severe degree of C in their dogs.  Who Knows? In ten years, we could be in that same spot.  It would seem that once the test is developed in one canine breed, it would be a bit easier to adapt testing to devvelop the same test for other breeds.  That's hwta was done with the Long-hair gene test--the results from Corgis was adapted to Mastiffs and our test was developed.

With all the advances they have in DNA today, I just can't believe a test is that hard to develop.  If they have the data base (which they do) and money has been forked over for this test development (which it has)--where are the results?

Maybe it's time for a pitch hitter.  There are plenty of private research/DNA private labs that could develop this test.  Perhaps we need to have MCOA look into puting funding into a research/development study at a different  location.

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Reply with quote  #4 

  Lorie, if it took them 20 years to develop the DNA test for Newfies, how much longer do you think we have?  10? 15?


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Reply with quote  #5 
Maybe it's time for a pitch hitter.  There are plenty of private research/DNA private labs that could develop this test.  Perhaps we need to have MCOA look into puting funding into a research/development study at a different  location.
Hi :>)
Now i agree with this :>) Maybe even Cornell or Perdue ???
We wont have a Breed if we have to wait another 10 years???

Im sure the money was not there ,up untill now .
But Ill bet by next year it will be rolling in ,maybe enough to have two labs working on it???

But how do you go about doing that?

Great work Catie :>)
Marge
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Reply with quote  #6 

MCOA and CHF are the ones that need to put presure on them or go to a differnt source.


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Reply with quote  #7 
MCOA and CHF are the ones that need to put presure on them or go to a differnt source.
Hmm!
Im sure thats not going to happen :>)
Marge
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Reply with quote  #8 
With all the advances they have in DNA today, I just can't believe a test is that hard to develop.  If they have the data base (which they do) and money has been forked over for this test development (which it has)--where are the results?
At least she answered me--but she really did not give me any solid concrete answers to my questions.

Hi Catie,
thanks for posting UPenn's response.
My thoughts are having read this,  about whats concrete..is that they only seem to know what its not at this stage..
in that its not the same for Mastiffs as it was Newfies

a milder form of cystinuria, and only males developed calculi at mid to older age if ever.
This cannot be completely explained by an x-chromosomal or autosomal recessive mode of inheritance or sex limited expression. 
Moreover, the genetic analysis of the known proteins involved in renal transport also did not reveal a specific simple defect. 
Hence, we are continuing to search for the molecular basis of cystinuria in Mastiffs.

Currently we are offering a urine screen that can detect animals at risk to develop cystine calculi.
The statement below is interesting, because it is enquiring as to whether they are stone forming...so to me while she is saying the urine screening can detect those at risk... well.... the question I still have is how  many of the urine screened positives do form stones? Maybe they don't have enough samples from stone forming mastiffs or something.
Your offer to get samples from a family with a dam known to have produced cystinuric (or stone forming?) offspring and crossings between closely related animals may certainly be helpful.

She seems hopeful that they are closer now than ever before to developing a DNA test..but it all sounds a bit wishy washy really dosn't it.

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Reply with quote  #9 
  My exact thoughts, Karen--a bit wishy washy.  The best input she could offer was for us to continue to donate money and send them urine to test.  OK, where has that got us so far?

I didn't feel that she answered my questions--just gave me the same ole spill that we have beeen hearing the last past few years.

I don't know about you, but when I ask direct questions--I usually expect direct answers. I asked if they needed DNA sampling from a "known Group" of clossely related dogs VS. a random sampling (where whomever has an affected dog sends them a sample in) and if samples from dogs who have a "clear" history for 2-3 generations would help. I din't really get a clear answer on those questions.

IMO-I do believe if a study was set us using one or two breedings from known carrier females (maybe sisters or Dam/Daughter) bred to an affected male (maybe even using the same male) a DNA test could be derived much easier. By using a gentic sampling of closely related dogs, we could isolate the gene easier when compared to a sampling of "clear" dogs.

Of course, no one wants to breed affected dogs.  However, if a few dogs were bred specifically to find this gene-the long range effect would be a positive benefit for our breed.  Look at the PRA study That was done.  Establishing an affected sampling was key to it's development.  With the cooperation of breeders, it could be done.

Of course, we would need to provide homes and care for these dogs.  I believe we could spay/neuter the puppies bred and follow the care of the males.  It would mean a short term sacrifice for a few.

Don't you think UPenn  has the facilities, abilities, staff and could set up the same type of study?  I do.  If they are not willing to take this step for Mastiffs, then we do need to go elsewhere.

Since supplementing a cysturnic dog with Vitamin C can lead to the formation of stones--those of us who have always used vitamin C in our dogs and have not had any problems could  be fairly sure our dogs from the past (those not tested) could be clear.    IMO-If you have never produced a positive tested or symptomatic (stone-forming) dog and you have used Vit C.--I would venture a guess that your dogs are clear; but this will never be "proved" without a DNA test.  

I don't want to wait 20 years to get a DNA test.  In 20 years, our breed could be like the Newfies with both male and females affected. IMO- waiting is not an option.



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Reply with quote  #10 
It would seem to me that if they are working off of grant money, there should be (would be?!) some document(s) that detail effort (methodology etc) and results (if any or none or partial or prelim) - also I would expect that there would be continued grant apps of some kind ? I am unfamiliar with open-ended grants that require no applications or reporting from the grantee....perhaps only with the AKC

Erika M.


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HI
Well one breeder ,with  three affected Males ,out of the same litter .
Has asked that Her Bitch be used , for a test breeding ,

She was told by MCOA Member ,that they could not go along with that .
Because even tho the Females would be fixed , it would not be right to have to put the positive males down , if they formed stones ,plus the expense
to the  adopted owners of these dogs ,would be  too great ,to keep them going .


NOW my look on this is ! Isn't better to sacrifice a few Dogs ,to save Hundreds ???

I know its not an easy ,decision to make , but if it would save the breed ????
Rather than all this guessing ,of who will and Who wont form stones ???

Or who to breed to ?? These Dogs that are coming up positive , are truly good lines and with great type and substance

It would be a shame to loose those lines

It makes one also wonder !! How bad it got in Newfs .If it took twenty years   to find the DNA ?

Marge

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basis of cystinuria in Mastiffs.
Currently we are offering a urine screen that can detect animals at risk to develop cystine calculi.

 
So does this mean ,the testing that we do now .
Is the one that say ,a the dog is at risk ?? Or  the Dog has Cystinuria and should not be bred ??
 
They are truly very glib ,on their information
 
 
Marge
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I have offered to take a dog from said breeding so has several others. We know the risk and the expense. But yet MCOA still wont go along with it. WHY?
I would like to know why the health web sites have not been updated in 5 years. Why even UPENN site has not been updated in 5 years. We send in money and samples but what is being done with them? Why is Geiger charging 100.00 for consultations and who is getting that money? Is is going to the research or in their pocket?

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Reply with quote  #14 

  Sometimes I wonder if this is a "cash cow" for UPenn and they don't want to procede anay faster?  Makes one wonder...


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Reply with quote  #15 
HI
I do remember many years ago :>)
That LBA said they can only work on this project when they have the money .

When the money runs out ,they stop work on it .
Till more money comes in . Now maybe more money will be rolling in now .

And they can work faster on it .
Lori!

I also agree with you ,on the ,MCOA site not being updated ,plus why does Geiger charge 100.00 ??

When i said that on the C -list ,no one understood the question  
Maybe someone will have to go to the MCOA list and ask these questions ???

To the health committe???????

Marge
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So does this mean ,the testing that we do now .
Is the one that say ,a the dog is at risk ?? Or  the Dog has Cystinuria and should not be bred ??

Marge,  the way I read it is the urine screening test is the one they offer and that currently they can find no 'molecular defect' as to why these dogs are 'at risk' and to date it can't be totally explained through  x-chromosomal, autosomal recessive mode of inheritance or sex limited expression.

Further she says ....

'Also definitely so-called clear families can be of great help as it is difficult to clear anyone definitively'.

Basically they know nothing.

Hopefully for mastiffs the 'other factor we havn't considered yet' that was alluded to in another thread, maybe will shed some light.
The grey area for me...we are all 'at risk' of getting cancer for instance...the potential is there, at least in that none of us are immune from it.
Some of this can be explained genetically, in that they have identified a gene for certain types of cancer..but largely they tell us environmental factors can be the trigger...stress, food, electrical appliances, chemicals, cigarettes and many other things increase the risk they say.
I think our dogs kidneys have never had to deal with the amount of toxins as  they do now... vacs, worming and other parasites, other medications, exposure to other toxins in the environment and god knows what is in dog food these days. Generations later who knows the cumulative effect these things have.
Genetic systems of living organisms respond to the environment, it will always be a relationship deal..and there will always be new challenges to maintaining health.






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Reply with quote  #17 
HI Karen :>)
Well the way im starting to see it .
Is someone better come up with something .Other wise a lot of Mastiffs and great lines ,will be kicked to the side , not being bred anymore

Or some will just keep going on breeding ,tests or no test ,
And that could also be a not so good thing

Im seeing where the owners are very upset that thier dogs are affected .

But it seems UPENN and some breeders feel ,it only ok to be upset if they from stones .And if they are not stone formers ,not too worrie .

Marge
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Here is a reply to an email I sent to UPenn:

Dear Mrs. White,
you are posing a lot of questions and the answers are not for all easy to give.
Environmental factors such as diet, supplements, and drugs may affect the cystine results; make them positive.  It is possible that the high protein diet only unmasks a predisposition to stone formation while a low protein diet may mask this risk.  A urinary tract infection and other illness (atrophic testicles) may also influence the results.  Based upon what we are learning from screening we have adjusted our comments. Please note our test is a screening test and the pathophysiology and molecular defect of cystinuria in Mastiffs are still poorly understood.  We hope to make further progress.
You may wish to retest your dog. I would suggest you collect a sample on the high protein diet and then a week after you have the dog on a regular diet.  We may also consider a challenge study but we are not yet there.  Keep samples frozen until shipment and send with an ice pack both samples together.  Your puppies can be tested anytime but we cannot do this at this stage for free. As you know the male offspring from an affected dog may be best sequentially tested (unless we have DNA test).  Finally while females are generally negative you may want to test the mother of the puppies (and also the parents of the affected male) assuming the results are confirmed.
Sincerely
Urs Giger


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Reply with quote  #19 
I am gonna put my two cents in here.

I have always been a firm believer in if you want to get rid of something in the breed.. breed it.  We don't worry about PRA since we now have had the genetic test for about ten years. Other than that nothing we have is "genetic".  PRA was bred and we have a test.  I am just in awe if someone has offered their bitch and MCOA has said no.. to me that is such a shame. 
Without US (breeders), these researchers would NEVER get the "glory" of our hard work and DEDICATION, and OUR hard earned MONEY!  yes, we pay them to do these studies with our breedings and our knowledge and pay for the testing.  We should have access to the results, should have access to the progress with out begging and pleading.

I am also shocked at the answers that you (Catie) got when you said that we would breed and give them all the info etc.. we are ready to do this, and it seems as if that was just shunned.  We could do so many controlled breedings, all dna'd, all placed in isolated situations, and it went unanswered.
it was like ... just keep doing what you are doing blindly, keep submitting money and samples we are working on this.

I am sure that most people that have a C+ dog or people that care about this would be the first in line to care for these dogs.. I bet you would have more people wanting to care for one than ever before.. because of the hopes of something great coming out of this. 

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Reply with quote  #20 
Quote:
Environmental factors such as diet, supplements, and drugs may affect the cystine results; make them positive.  It is possible that the high protein diet only unmasks a predisposition to stone formation while a low protein diet may mask this risk.  A urinary tract infection and other illness (atrophic testicles) may also influence the results


It is also my understanding that Geiger is the only one that believes this. you will get a different answer if you ask Henthorn. This is why there is so much miss communication on the subject. If we keep going by what they say we will destroy this breed. It is up to us breeders to push MCOA and CHF for better testing at least until a DNA marker can be found.

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bump

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Thanks Aimee, we wish we would know more about cystinuria in Mastiffs than we do currently. We know lots in Newfis which I studied many years ago. We hope to get there soon with Mastiffs.  It is good to be concerned and up on current knowledge.
If you want to help repeat urine samples from Batista on a high protein diet and then on a regular diet and possibly on a supplement might help us a lot. Also the parents urine and EDTA blood samples may help if he is positive.
Sincerely
Urs Giger

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Unread post Today at 01:45 PM #22

Thanks Aimee, we wish we would know more about cystinuria in Mastiffs than we do currently. We know lots in Newfis which I studied many years ago. We hope to get there soon with Mastiffs.  It is good to be concerned and up on current knowledge.
If you want to help repeat urine samples from Batista on a high protein diet and then on a regular diet and possibly on a supplement might help us a lot. Also the parents urine and EDTA blood samples may help if he is positive.
Sincerely
Urs Giger

 

HI :>)
So how many times would we have to change from high protein to low ?
 
I thought the thinking was , if the test is positive its positive ?
 
So we change the protein ,test comes back negative ?
 
Wouldn't it be a false negative ???
 
See they throw this stuff out there ,without answers .
 
And then breeders feel hey I changed the food ,and hes negative now .
 
So lets breed Him Iget truly lost over this
 
Because so many good breeders are getting ,beaten up over this . And Lines
 
And they cant give a positive answers on any of this .
 
I know a breeder wanted to breed Her positive Girl.
Since She threw 3 positive males ,the thinking is She is a Positive Bitch .
 
Anyway she wanted to breed Her to a Clear Newfie .But was told no!
 
Now I'm wondering if this breeder was not a MCOA member ,and still did that ,but worked with UPENN, If they could do that ?
 
I'M sure as someone here said , She would have a lot of help from other breeders to keep the Pups and do testing ??
 
Cant we just bypass MCOA??? on a Test breeding ?
 
And work with just Upenn ??
Marg e
 
 


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...quote...Now I'm wondering if this breeder was not a MCOA member ,and still did that ,but worked with UPENN, If they could do that ?
 
I'M sure as someone here said , She would have a lot of help from other breeders to keep the Pups and do testing ??
 
Cant we just bypass MCOA??? on a Test breeding ?
 
And work with just Upenn ??
Marg e...quote

 

Ya know Marge, I agree with you here.  Assuming that  the reason the MCOA said no go was concern for the one litter of puppies. I'm not a member of MCOA, but if I was and in the position to even possibly contribute to finding the answers by a breeding....I would do it, knowing that the mastiff community and breeders were behind me, as seems to be the case here.
 
Martha

 


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  Well, MCOA had no problems approving and doing the test breeding to get the PRA DNA test--the litter of "Meagles" was the defining data needed to develop the test!   I guess because they were "mix-Breeds" it was Ok for them IF they became blind!

So what would be the difference if we did the same to devlop a DNA test for Cystinuria?  If it was OK once--it should be OK again.

  I'm sorry, but my impression is that UPenn are in no hurry to develop a test for our breed.  Yet, they have no problems taking our money in donations ( private and thru MCOA), "consultations,  and  continued "yearly" testing!

As long as there  is no DNA test, breeders will need to continue to screen our males yearly as long as we have them at stud.   UPenn will continue to reccommend yearly screening for dogs "at risk".  Well, that's a guarenteed income for  UPenn and no definative answers for us.

  If they develop a DNA test for us--they may be killing the "golden Goose".  It would mean a lose of basic income for them--we could  DNA test our dogs once and never need the NP urine test or "consulatations"  again. 

Over a period of years, we would gradually increase the number of "clear" dogs via the DNA test and be able to breed these lines producing "clear" puppies--that would NEVER need to be NP urine tested!  So the number of NP urine tests each year would decrease--i.e.  income for UPenn from this test and "consultations" (at $100.00 a pop) would decrease.

  So why be in a hurry?  Once a DNA test is developed--what are Gieger and company going to do at UPenn? It could mean a huge change in their research funding and academic standings.  It's educational "politics" at it's best.

Breeders and owners want and need the DNA test--UPenn  at present is not motivated to develop such a test.  You can not convince me that UPenn has the best interest of the Mastrff breed at heart.

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Reply with quote  #26 

I do want to point out that many of the heath commity chairs have sent in new info to MCOA to be updated on the website but it still is not done.


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Reply with quote  #27 
I believe there was private funding for the PRA research also.

Understandably, each disease which afflicts our breed is a serious one and not to be taken lightly...in all due respect, the aforementioned causes blindness...yet the dog can still live a productive, full life....  I owned a bitch who was blind from Glaucoma when she was 8 years old and lived a full life.  Dogs can compensate.  A dog who is cursed with Cystinuria and is exhibiting symptoms of such, does not always have a good outcome.  Some do.... most don't.  The meds are too expensive and the surgeries sometimes need to be repeated.  At least that is what I am lead to believe.

One would think it would be high on the priority list because as it appears, this is based off recessives, or whatever they guess it would be ,and can be hiding everywhere.  I really don't believe they have the slightest clue.  I guess what bothered me most is the fact that they increased their fees.... why?  And they should give a break to those dogs who are exhibiting symptoms.  Something just doesn't sound right here.  I entertain the idea of going elsewhere, such as Cornell, and see what they can do.

I honestly no longer have a good level of comfort on the 'test' that is available at this time from what I've just read on this thread... pretty scary.

I hope MCOA changes their mind and supports the research and that UPenn give this priority.  They did it for the Newf... no reason not to do the same for the Mastiff.

Bes


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Reply with quote  #28 
HI
I have not looked in to Newfs ,but i wonder do the breeders advertise them doing the DNA test ?

On thier breeding stock? Anyone know ??
Yes i feel we need more help on this .
From cornell or perdue ???

Marg e
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Reply with quote  #29 
Can someone contact the Newf club to find out exactly what steps they took?  It just doesn't make sense.

Bes


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Reply with quote  #30 
http://www.ncanewfs.org/members.shtml

I found this ?I see they do test for Cystinuria ??
But i seen no web sites

Maybe someone can contact them ??

MArge
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Reply with quote  #31 
Ya know Marge, I agree with you here.  Assuming that  the reason the MCOA said no go was concern for the one litter of puppies. I'm not a member of MCOA, but if I was and in the position to even possibly contribute to finding the answers by a breeding....I would do it, knowing that the mastiff community and breeders were behind me, as seems to be the case here.
 
Martha


HI Martha :>)
Well since it is popping up quite often now ,i think a little more speed on this ,would be great :>)

It seems we read or hear of another Male being positive .
And it comes to light again ,then it dies down .We need to keep a light shining on this :>)

But How ??
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Reply with quote  #32 
Well folks ..maybe this is the reason there is so much confusion ..and strange messages..lol Our mates at UPenn are involved with the Centre for Comparitive Medical Genetics
Our mastiff samples.. might be underpinning other research or vice versa?..(high lighted yellow below)


Titre du document / Document title
Canine cystinuria : polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
Auteur(s) / Author(s)
HENTHORN Paula S. (1 2) ; JUNLONG LIU (1) ; GIDALEVICH Tanya (1) ; JIKANG FANG (1) ; CASAL Margret L. (1) ; PATTERSON Donald F. (1) ; GIGER Urs (1) ;
Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)
(1) Section of Medical Genetics and Center for Comparative Medical Genetics, Laboratory of Biochemistry University of Pennsylvania School of Veterinary Medicine, Philadelphia, Pennsylvania, ETATS-UNIS
(2) University of Pennsylvania School of Veterinary Medicine, 3900 Delancey St., Philadelphia, PA 19104-6010, ETATS-UNIS
Résumé / Abstract
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acid reabsorption and cystine urolithiasis. Different forms of the disease, designated type I and non-type I in cystinuric humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3AI (rBAT) and SLC7A9 genes, respectively. Type I cystinuria is the most common form and is inherited as an autosomal recessive trait in humans. Cystinuria has been recognized in more than 60 breeds of dogs and a severe form, resembling type I cystinuria, has been characterized in the Newfoundland breed. Here we report the cloning and sequencing of the canine SLC3A1 cDNA and gene, and the identification of a nonsense mutation in exon 2 of the gene in cystinuric Newfoundland dogs. A mutation-specific test was developed for the diagnosis and control of cystinuria in Newfoundland dogs. In cystinuric dogs of six other breeds, either heterozygosity at the SLC3AI locus or lack of mutations in the coding region of the SLC3A1 gene were observed, indicating that cystinuria is genetically heterogeneous in dogs, as it is in humans. The canine homologue of human type I cystinuria provides the opportunity to use a large animal model to investigate molecular approaches for the treatment of cystinuria and other renal tubular diseases.


If you click here......http://www.cystinuria.com/articles/cystinuria/
you will find a very interesting article on where they are at with human cystinuria...its long but worth the read...as is the 'update on cystinuria research'
it really starts to make some sense of the statements coming back from UPenn recently..in my mind anyway..lol

By the by, I actually rang UPenn today as we still havn't got our results back and I happenned to get this dude Giger on the line..his secretary had gone home! (so didn't get the info I was after) but took the opportunity to ask a few questions. He said they would not be releasing the study until it was completed. I asked about stats for stone formers..he said roughly thousands of mastiffs had been tested and roughly100 were stone formers. He alluded to another protein involved that was high in some types of high protein meats...????
I felt he didn't really want to talk too much though..and like most..I still have more questions than answers.

Besides humans...I do think UPenn are working with alot of other canine breeds as well.... who all may have different degrees/types/variations of this disease that may require different investigations. Mastiffs are just one part of the big cystinuria jigsaw.... who knows how they have prioritised research....which parts of the picture they are working on at the moment. Maybe this is why it is taking some time and why they are 'vague' about the offer of a mastiff family for research..
In the meantime we will just have to keep screening our dogs.

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Reply with quote  #33 
Well, reading through all of this I have a couple of questions:

When the 'Meagle' breedings were done, were the Beagles possibly used because they already had a test in place in that breed for PRA? If so, maybe the correct breeding would be a Mastiff to a Newf (or another breed that already has a C+ DNA test in place)?

Has anyone considered hiring an independant lab to work on this?

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Reply with quote  #34 
  Barrie, that was one of the orginal questions--If UPenn can not or is not going to move ahead--why have we not moved to an independent lad (i.e DMC developed the long-hair gene test).

PRA was "inherted the same way in both beagles and mastiffs.  They knew where the gene was in Beagles--so that is why the cross was done.

Newfies and Mastiffs do not have the same genetic inheritance method for cystinuria--so crosssing them would not help.  I wish it was that easy.

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Reply with quote  #35 
I'm not sure it can be done without the MCOA backing the project but, I could be wrong.

When the PRA was done, the Sanchez' gave alot of themselves as it affected one of their dogs and they invested in the research.  I'm sure that Carla can be reached for more information.  Maybe that's the direction we should be taking to find out what was necessary in order for MCOA to help fund the research as well as $donations$ from the public.

Who is heading the Cystinuria chair in MCOA?

Bes




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Reply with quote  #36 
How much money was spent to find the DNA marker for long coats? 

I'm sorry... but a long coat doesn't kill a dog and has no health implications at all...just cosmetic.

Bes




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Reply with quote  #37 
Who is heading the Cystinuria chair in MCOA?

I think Anna may
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Reply with quote  #38 
  AS far as I know no money from MCOA was spent on the development of the test for long hair--an independent lab was developing a DNA test for other breeds--adapted it and derived the DNA test for mastiffs.  MCOA nor the CHF had nothing to do with the development of the LH gene test.

Once they had the data--samples needed--they were able to develop the LH gene test in 2-4 weeks.  So, if you have the equipment and lab set up for DNA testing  and the right samples to use--it can be done in a timely manner. 

 DDC Veterinary in Fairfield, OH developed the LH test all on their own.  They could posssible be a very good lab to develop a Cystinuria DNA test.  No politics--just someone working on a goal--developing a DNA test.

It's a thought.



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Reply with quote  #39 
The funding for Cystinuria research can be quite expensive and that means we have to start over with a new lab unless, which I doubt, UPenn sends over the results of the samples they've tested....

To be honest, when I heard about the LH gene.... I found it ridiculous.  Spending money to know whether your dog can throw a fluff... not relative in the whole scheme things.  I won't do that test as I feel it doesn't affect the life of the dog.  There are far more important issues which affect our breed and I wouldn't be surprised if many of these issues have begun to crop up due to poor nutrition and tainted dog food additives..  I'm sorry but I don't trust the dog food companies.  Cancer has been on the rise... why?  It's been around but you seldom heard about it...same with cystinuria. 

MCOA would have to fund the research unless there is a willing donor to make a sizable donation.  Funny.... it all comes down to $$$.

This should be brought up at the next MCOA board meeting...  don't they meet on a monthly basis?

Bes


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Reply with quote  #40 

it all comes down to $$$.

This should be brought up at the next MCOA board meeting...  don't they meet on a monthly basis?

I think it would be Anna May or Jan MCnamee ??



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Reply with quote  #41 
Hello everyone, this is my first time posting on this list and I am only here to correct a few things.
First of all YES, I offered to breed my girl Tangee to help in finding a DNA as she has produced 3 positive boys.  This was NOT presented to the MCOA.  This was discussed between myself and Anna May the health committee chair.  She discussed this with UPENN, who said they didn't feel this would be necessary or productive at this time.  My thought was to breed my girl (if x-linked, then she is a carrier) to a positive Newf or to breed a Clear Newf bitch to a positive stone forming male mastiff.  So we didn't go as far as present this to the MCOA.  She and I discussed the situation and kicked around the pro's and con's.  So, PLEASE do not be stating that the MCOA won't do this or has not agreed, as they were not even involved in the conversation.  Also, the Cystinuria chairman is: Lisa Edwards-Filu (845) 477-0233 darkmstf@yahoo.com
Not Anna May, she is the Health Committee Chair, tho she does speak with Paula Henthrone often and is really hopeful for some answers as soon as possible as we all are.
Also, btw, there were 8 boys in Tangee's litter, so to date 7 are tested, 3 positive and 4 negative.  Her other litters so far are testing negative, tho they are younger and things may change, but it will be interesting to see if they are ever positive.  We are also asking ALL the dogs we have ever produced to test their boys and we are also testing Tangee's grandsons from our girl Monkey who may possibly be a carrier.  Visit our web page for all test results: http://www.windfallmastiffs.com/test_results.htm
Jan


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Reply with quote  #42 
  Good for you Jan.  That's one of my points--there are breeders and individuals who are willing to step up to the plate and help in any  manner if UPenn will just make the decision and ask.

  So what is the hold up?  What does UPenn need to get this study done?

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Reply with quote  #43 
didn't go as far as present this to the MCOA.  She and I discussed the situation and kicked around the pro's and con's.  So, PLEASE do not be stating that

HI Jan ,
So now that it has come to this board :>)  And I'm sure has been read by both Ladies , Do you think there Will be a chance the board will ,go along with you doing it now ??

Marge
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Reply with quote  #44 
Quote:
  She discussed this with UPENN, who said they didn't feel this would be necessary or productive at this time. 


So what do they feel does need to be done. Even if a DNA test is not around the corner what about just better testing that is more accurate.

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Reply with quote  #45 

Jan - thank you so much for bringing this to the Forum.. we need all the help we can to try and find the solution to finding out how to prevent this terriable disease. The more people that work on this together in any way they can, the faster we can stop out cystinuria.  Maybe the Forum can be the stomping center!  Seriously, thank you.


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Reply with quote  #46 
The MCOA isn't being presented with the thought of a test breeding, as UPENN has stated they didn't think it would be useful.  So if they are not in support of it, MCOA surely isn't going to support it. 

UPENN Is looking into better diagnositic tools, but right now the NP test is the best we have.  The key is to get more families with positive dogs involved in submitting blood and urine.

I know Anna May has been working diligently on this with UPENN, tho she isn't the Cystinuria Chair, she is the Co-chair to the health Comm and is very pasionate about this subject.  She has helped me tremendously when I first learned of my offspring affected and she has built quite a repor with Dr Henthorn and hopefully that will help in UPENN being more committed to the MCOA. 

Jan

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Reply with quote  #47 
in UPENN being more committed to the MCOA. 


HI :>)
I know if you have been reading these past threads here .
Do you think it would be wiser to find, another Lab to also start helping in this ?
Say Cornell or perdue ?  Since it has been over 10 years now ???

Maybe another Lab would also be helpfull ?

Marg e
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Reply with quote  #48 

UPenn has always been absolutely WONDERFUL to work with and they have maintained a close relationship with the MCOA.  The researchers working on our Cystinuria Grant are highly respected in the research field and they are very passionate about finding answers.  Since their Grants on Mastiffs are through the CHF there is a very thorough and strong peer review process that takes place.  They have a contracted agreement which must follow strict protocol.  They have used state of the art modern DNA techniques such as SNP Chip analysis... UPenn is also an Ivy League University with modern equipment and they have an excellent track record of finding answers in genetics and other areas.

 

The UPenn Cystinuria Researchers also collaborate with other top research facilities in the USA and they follow both human and animal scientific & genetic studies around the world.  They have friendships and relationships with researchers at Broad/MIT, Cornell, NIH, etc that they can call on when needed.  They are among the best of the best without any doubt in my mind. 

 

Financially our Cystinuria study has been funded by the MCOA and other breed clubs along with individual donations which have been matched by the CHF.  In addition to this, the Penn Genomic Frontiers Institute (of the University of Pennsylvania) has also matched the funding to help finance whole genome studies.  I cannot begin to communicate what that means as far as dedication, commitment and financial backing goes.

 

Cystinuria in Mastiffs is COMPLEX and the researchers around the world have been trying to figure out complex diseases for many years.  When UPenn cracks the code so to speak, I'm sure it will be an extremely important breakthrough that the entire medical community will appreciate.

 

In my opinion we do not have any reason to blame UPenn for not finding answers for us by now.  They require blood and urine samples from families of dogs and the breeder, stud dog owner, and dog owner participation is limited.  Think about it, how many Mastiff breeders are there that have generations of Cystinuria tested Mastiffs.  Take it a step further how many are there that have generations of ADULT tested Mastiffs & require it of their puppy buyers?  Have you looked for Cystinuria clear stud dogs lately (at least 2 negative tests as adults at the time of the breeding)? Also consider that Cystinuria in Mastiffs is very complex.  Now we should turn this around and think it through a little harder. It is our responsibility as Mastiff breeders, stud dog owners and Mastiff owners in general to give UPenn the resources (blood & urine) and information they need to break the code and find the gene(s) that cause Cystinuria in Mastiffs.

 

PLEASE Cystinuria test your Mastiffs, especially as adults and repeat the test annually on your dogs used at stud or before each breeding.  If you can do it, test the brothers & the father of your bitches before they are bred.  If your dogs come up positive, send blood and urine on them and their close relatives...

 

UPenn needs help from the breeders to prove the mode of inheritance.  There are plenty of affected families to document if they will step forward and participate in the research.

 

In addition to trying to find the gene(s) that cause Cystinuria in Mastiffs, UPenn needs our help in understanding and to prove the mode of inheritance in our breed.  They are also looking into better diagnostic tools to help identify C+ dogs and possible preventative measures that might help reduce the risk of stone formation.  They are working hard to find the answers we need and I cannot imagine having a more qualified, dedicated and passionate group working for us. 

 

Besides participating in the UPenn Cystinuria Study, the MCOA is also encouraging everyone to send blood to OFA to be added to the CHIC DNA Repository.  This is especially important for our veterans.  A healthy veteran's DNA can be used in all research projects that require unaffected dogs.  If the dog has had a medical condition that is being researched, its DNA will be available when affected dog samples are needed....  We need to be pro-active for future research too.

 

I'm not normally on these message boards and I pray that the tune turns to one of positive hope instead of negative thoughts.  If you have questions in the future, you might want to contact the MCOA Cystinuria Committee Members for help and assistance.  We are in the process of updating our website and UPenn is doing the same, but overall the message will be the same.  Cystinuria is a metabolic, genetic defect in Mastiffs.  Test your Mastiffs for Cystinuria, encourage their relatives to be tested and participate in the research studies. 

 

If you have a C+ dog, please offer them plenty of fresh, clean water through out the day and encourage them to drink it.  Let them go out to urinate often and don't ask them to hold their urine for very long.  In case your C+ Mastiff passes away, although it is hard to do, please consider prearrangement plans with UPenn to donate its kidneys to Cystinuria research.  This is especially important on C+ dogs that never formed stones as well as from C+ stone formers.

 

Thank you and give your dog a hug,

 

Anna May

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Reply with quote  #49 

COMPLEX DISEASES

 

If you are interested in trying to understand complex diseases and why it is so hard to crack their codes, there are numerous articles on the internet about the topic.  Even the basic explanations are somewhat complicated and that is why they are complex. 

 

The researchers have to understand the patterns and the triggers of the disease to try to help understand the metabolic processes that take place and to just understand the disease in the focused population.  With complex diseases there are variations that take place within individuals and within families. Those variations make it much more complicated than a simple form of the disease.

 

Along with that the researchers need pedigree information on affected families to understand the mode of inheritance.  

 

Even with research on humans, there have not been any major breakthroughs on complex disease to date that I'm aware of.  They might be able to identify specific genes that are associated with a specific complex disease, but then they still have to figure out the molecular processes that cause the genes to trigger...  For example with breast cancer researchers have identified a gene that's associated with the disease, but they do not fully understand why some people that have the gene develop breast cancers while others with the same gene do not…

 

Here are some articles on complex diseases:

 

Discovering genotypes underlying human phenotypes: past success for mendelian disease; future approaches for complex disease

 

http://www.nature.com/ng/journal/v33/n3s/full/ng1090.html

 

 

Mathematical Modeling of Complex Biological Systems

From Parts Lists to Understanding Systems Behavior

Hans Peter Fischer, Ph.D.

 

http://pubs.niaaa.nih.gov/publications/arh311/49-59.htm

 

So, as you can see complex diseases are complex!  Besides finding the genetic answers, we need to positively identify the mode of inheritance, the age of onset, the environmental factors such as diet….  UPenn is continuing to research Cystinuria in Mastiffs at the genetic level and now they are looking again at better diagnostic tools and possible preventative approaches for us to deal with this disease…

 

The answers will only be found if we participate in the research by submitting blood, urine, pedigrees, personal observations, environmental information...  Dr. Acland of Cornell University, Baker Institute, UPenn & OptiGen told me (not a direct quote) the best way to find answers on genetic diseases in dogs is to go to the experts "the breeders".  So, we need breeder participation for our research projects to be sucessful.  The breeders can only do it with participation from their puppy buyers and the owners of closely related dogs....  It's a team effort between the breeders, the owners, the researchers, and the parent clubs.....

 

Anna May

 

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Reply with quote  #50 
Well said Anna!
I know we all want this to be much simpler and we want to all be able to help save our kids, but the researchers are doing what we need them to do, we just need to get the mastiff owners/breeders to participate to help them with the supplies they need to get it done.
Jan

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