More from the UK on ARVC

[Newcastle]

I saw a note from Dr. Cattanach on the SB-L that he'd updated the UK dog press on ARVC in that country, and that the results from a second set of dogs--which met Dr. Meurs' requirements--showed results that matched the first set.  I found his report, here:

http://www.dogworld.co.uk/Breeds/BreedNotes/52-BOX-%281%29
(about 1/2 way down the page)

A few snippets:

(Re: the first set of dogs)

More confusing was the More confusing was the finding that two such control dogs actually typed homozygous positive (double dose of the gene), which is supposed to give severe BCM. One was nearly eight and the other 13 years old and both were still healthy. I asked Jo Dukes-McEwan to Holter the 13-year-old and the result was unambiguously clear. Subsequently, on being put down for unrelated reasons, the 13-year-old dog had a post mortem. The detailed pathology failed to show any indications of the fibro-fatty lesions that characterise BCM. The American gene screen does not seem to have any relevance for UK Boxers.

Regrettably, our material was criticised by the Americans, but the LUPA group recognised that there was indeed a big problem, and Jo Dukes-McEwan arranged with Kate Meurs to screen a second set of samples that she and Paul had put together. The results have not yet been announced but I might as well say they correspond well with those of the first set. There is very definitely a problem with this American gene test, at least with our dogs.

In view of the delicacy of the situation, I asked Kerstin Lindbad-Toh what exactly I could say publicly. The following is her reply: “If you want to represent me you should say that it (striatin) is one of several genes for ARVC in the Boxer breed. The data is hard to interpret because we only have one, not the whole picture now! I do not think it (striatin) is the gene for ARVC, I think it is one of two or three genes together causing the disease. If you want to say what I think, you have to be explicit about this”.

And Dr. Cattanach's statement:

I, personally, do not see several genes working together as really being the right answer, but this is unimportant at the moment. The important point is that there will be new work and I would hope that everything can be resolved quickly.

[RocketBoxer]

Interesting 

Personally I feel that we have been left hanging in the wind on this one - from a US perspective. We have heard absolutely NOTHING from any of the US people working in this area. We were promised a report when 1000 dogs had been tested, and amongst all of the controversy we still hear nothing. I am a little mad right now.....

[fairview Boxers]

my take!!!!

I think that the controversy of it all, has "set them back", and they are procrastinating the 100 dog report because of it.  Maybe it is a slight embarassment for Dr. Meurs, I can't speculate honestly... but I would second guess myself with just what I have seen... Dogs directly bred from lines known to carry the disease and die from the disease that are negative, and so many of the UK dogs that haven't shown a trace of it in generations being double positives... it doesn't make sense to me personally... Time will tell us what to make of it!

[Newcastle]

A bit more, more recent:

http://www.dogworld.co.uk/Breeds/BreedNotes/4-BOX-(2)
About 1/2 way down; this again from Dr. Cattanach.

To recheck the findings, Jo Dukes-McEwan gathered together a group of her own ARVC cases that had been Holter tested to the experimental level demanded by Kate and also a group of her Holter tested aged control dogs who were deduced to be ARVC-free. Jo  even split her cases into two groups, ones who displayed pure ARVC characteristics and others who showed a more dilated type of cardiomyopathy. Included, but kept separate, was a group of similarly tested ARVC cases from Paul Wotton and a further group of mine (checked by Paul), plus a larger sample of our clear-by-pedigree controls.

Samples from all of these were sent to the US for the gene screen. I hinted at the results before the holidays, but Jo has now formally presented the findings. They showed that the striatin mutation was similarly distributed in both cardiomyopathy types ­which is not surprising as they came from the same families ­ and also in the controls. The second set of tests, therefore, confirms the first set that I had submitted earlier.

I think it can be safely concluded that the identified striatin gene is not responsible for the ARVC we have in our UK Boxers. The findings have been sent to Kerstin Lindblad-Toh, who did the core work to find the gene, and also Kate. Kerstin had written back to all of us accepting their validity.

[fairview Boxers]

Thanks Jennifer!!!!