MVD to be included in SM genome scan!!
This is very exciting news and offers a real glimps of hope for fighting these two terrible scourges of the CKCS breed.
MVD is now officially part of the international CKCS genome scan
Gaining a better understanding of the genetic component of mitral
valve disease, and hopefully, the identification of the responsible
genes and creation of a genetic test, is now to be included in the
existing CKCS genome project underway in Canada. This is a very
significant new element of the research and comes after the initial
phase of the scan and analysis of genetic samples has indicated this
should be possible to do. This looks to be very exciting work,
providing a better understanding of both conditions and we all hope,
a way forward to tackle these conditions in the breed.
More information here, in the new newsletter from Dr Clare Rusbridge,
released today. I've posted it as a webpage:
From the molecular geneticist who has worked on the DNA samples:
The first step which is genetic mapping is currently underway. Due to the complex inbreeding in the CKCS, a preliminary genetic analysis
was necessary to evaluate the informativeness of the genetic markers
and hence the feasibility of a whole genome scan in such breed.
Consequently, 10 dogs were selected for genotyping with 122 markers
distributed among the 38 autosomes and X chromosome. The markers were found to be sufficiently polymorphic and informative. Next, 200 dogs were selected for a whole genome scan, primarily for Chiari
malformation. However with additional phenotypic information on
mitral valve disease, it is possible to use the same data to map the
gene(s) defective in this disease. The whole genome scan was
conducted at the Mammalian genotyping Center at the Marshfield Clinic in Wisconsin, USA. The genotyping data will now be analyzed using both linkage-based and association studies. In the latter, we will be taking advantage of the founder effect demonstrated for both these disorders in the CKCS breed.
This strategy involves: 1) genetic mapping of the underlying gene(s),
2) identification of these defective gene(s) using the positional
candidate gene approach and characterization of the mutation(s) and
3) initial functional characterization of the protein(s) encoded by
the gene(s). This will help better understand the underlying
pathogenic mechanisms for better diagnosis, prognosis and clinical
management of these devastating conditions. These studies will also
help unravel some of the complexity involved in this malformation in
humans and in the embryonic development of the affected structures."