Dobermann DCM from group of University of Guelph-C

[trouble]

A new investigation of the genes associated with Dobermann DCM from group of University of Guelph-Canada, published July-2011, avmajournals.avma.org/doi/abs/10.2460/ajvr.72.7.932 show that an alpha-actinin gene variant, resulted in an amino acid change in the rod-forming triple coiled-coil domain, was detected in 40% of affected Dobermann (2/5) and may contribute to the development of DCM given its potential effect on the structure of this protein.

Reference:
O’Sullivan ML, O’Grady MR, Pyle WG, Dawson JF (2011). Evaluation of 10 genes encoding cardiac proteins in Doberman Pinschers with dilated cardiomyopathy. Am J Vet Res.;72(7):932-9.

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Alpha-actinin gene (ACTN1) is located in canine chromosome 8. Alpha-actinin is a cytoskeletal protein that in muscle cells is found at the Z-disk of sarcomeres where they help anchor the myofibrillar actin filaments.

This research illustrates newly the polygenic and complex nature of DCM in Dobermann.

[trinitydobes]

Thanks Bitten,

Boy what a challenge it is going to be for breeders to keep abreast and deal with these new findings. Its great that 40% of affected dogs have demonstrated this variant on yet a different chromosome but that leaves 60% of affected dogs that did not have the alpha-actinin gene variant.

Again, like the Meurs DNA test, with that low a percentage a test for this variant cannot be considered to be predictive. Its important information, but I am sitting here shaking my head wondering what if anything we can or should do with this information, and if it would do any good to test my dogs.

I hope we do not end up identifying 20 to 30 of these variants or mutations all with low percentage of incidence within the affected study group. With each new discovery that is non- predictive, it does not really offer any help to breeders nor blood stock selection.

[trouble]

So far 3 mutations on 3 diffrent chromosomes - [5 - 8 - 14] - this confirmes what was alredy estimated in the early 1980's - that this disease very well might be of polygenic heritage ... let's see what else might pop up, just hope additional findings will be more difined.

[DeDe]

After all this research and studying and speeches, Bitten, are you SURE you never got a PhD?? LOL
Thank you so much for keeping us current on the latest developments!

[breesmom]

Sept 7, 2011 15:44:26 GMT -5 trouble said:

So far 3 mutations on 3 diffrent chromosomes - [5 - 8 - 14] - this confirmes what was alredy estimated in the early 1980's - that this disease very well might be of polygenic heritage ... let's see what else might pop up, just hope additional findings will be more difined.

Could someone please explain in words that a dummy can understand ......polygenic heritage Thanks!!

[trouble]

Poly = many => when something might be polygenic means that more than one genetic disorder [mutation] is needed for the development of the inheritaged disease.
Each of these genes/mutations of genes have their own genetic disposition, but are depending on all or a combination of several other genes/mutations to be present before the disease breake through.
Hope that helped ...

[trouble]

DeDe ...

Yes, I'm sure - don't have a PhD, never studied at the University, don't have a degree in medicine - I'm merely an average person reading and teaching myself ... plus getting some help from my connections at the Universities

Sorry, I haven't been around lately - been to busy creating a new paper in cooperation with Sonia Garcia

[DeDe]

I've missed ya!!!!! {{HUGS}}}

[dobs4ever]

(quoteI hope we do not end up identifying 20 to 30 of these variants or mutations all with low percentage of incidence within the affected study group. With each new discovery that is non- predictive, it does not really offer any help to breeders nor blood stock selection. (quote)

Dr. Meurs said that there were 24 found so far in humans. It is a very complicated and complex disease. That is one of the things that make it so hard to pin down. It seems with each new test we are faced with more questions. It must be mind boggling to study and research DNA codes and results.

I would imagine that their frustration level is twice ours!!!