First Results Posted from the DCM DNA Gene Mutation Test !!

Unread postby js_finland » Tue Jun 07, 2011 10:02 am

^ Perhaps - and this is just speculation - but how about the following?
"The frequency of the DCM-associated C-allele at CFA5:g.53,941,386T>C varies among the different subphenotypes (Table 1). It is highest among the group of Dobermans with isolated arrhythmias and lower in Dobermans that have only echocardiographic changes. However, these differences in allele frequencies between the different DCM sub-phenotypes are not statistically significant (Fisher's exact test)."

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"The human interval contains 14 annotated genes and 4 hypothetical loci (NCBI MapViewer, build 37.2). A careful inspection of these genes and database searches of their presumed function revealed that none of them represents a known DCM gene. The “FGGY carbohydrate kinase domain containing” gene (FGGY) in the associated interval is a protein coding gene with unknown function."
"We already excluded coding mutations of the FGGY gene."

I remember reading the WSU/VSGL findings were related to carbohydrate kinase - it looks like the European group did not concentrate on this area of dna, does't it?

BTW This is also a quite interesting part of the article:
"The genotype frequencies at this SNP are displayed in figure 2. Among the combined 86 DCM cases of both cohorts 41 Dobermans (48%) were either homozygous or heterozygous for the risk-allele. However, the other 45 DCM cases (52%) were homozygous for the protective allele. Among the combined 94 Doberman controls, only 9 dogs (10%) carried the risk-allele in heterozygous state, and none of the controls was homozygous for the risk-allele."

It seems that also a protective allele has been identified (in humans?).
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Unread postby jotunheim » Wed Jun 08, 2011 7:33 pm

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Unread postby js_finland » Tue Jun 14, 2011 4:44 pm

Sonia Dobe wrote:The total probability to breed a true unaffected dog with WSU test and breeding directive (21.7%) is almost half probability to have an unaffected dog by hazard: 100 - DCM prevalence= 42%. A shocking truth!


This discussion seems to be cooling down and perhaps it's best in this case...
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Unread postby js_finland » Tue Aug 09, 2011 9:23 am

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Another gene associated with Dobermann DCM

Unread postby Sonia Dobe » Wed Sep 07, 2011 1:00 pm

A new investigation of the genes associated with Dobermann DCM from group of University of Guelph-Canada, published July-2011, (http://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.

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.
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Unread postby BasKal » Fri Sep 09, 2011 6:15 am

Very interesting.
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