2023-08-30 10:39:18
A group of researchers has identified a genetic variant related to sudden cardiac death in young animals (SCDY) in two breeds of dogs. This heart disease is the result of an inherited form of dilated cardiomyopathy, when the heart becomes weak and enlarged, preventing it from working properly. These new findings also have implications for predicting SCDY and dilated cardiomyopathy in humans.
In humans, SCDY often has a genetic basis, but because the condition is rare, it is difficult for researchers to accumulate enough data to confirm that specific genetic variants are the cause of the disease.
On the other hand, dog breeds that have gone through many generations of selective breeding have relatively little genetic diversity (even among disease-causing genes), making it much easier to identify variants related to specific conditions. And because dogs share genes for susceptibility to many inherited diseases with humans, including sudden cardiac death, dogs canine models offer promising pathways to understand the genetic basis of the condition in humans.
Manchester Terriers provide one such model, and the researchers sought to identify the gene responsible for SCDY in the breed using a genome-wide association study (GWAS). In a GWAS, thousands of genetic markers are scanned to look for associations between the markers and the disease. This allows researchers to pinpoint the location of disease-causing variants.
He study initially enrolled 48 Manchester Terriers, including 12 dogs that had died suddenly before 2 years of age from SCDY and 36 healthy adult dogs. A follow-up phase to validate the findings added more dogs, including English Toy Terriers, a closely related breed, for a total of 26 SCDY cases and 398 healthy adult dogs.
the researchers found a variant in a gene called ABCC9. Having two copies of this variant (ie, one from each parent) had a perfect association with SCDY, supporting a causal role in the disease. According to the authors, this discovery would not have been possible without the support of Manchester Terrier breeders, who contributed through research grants and by recruiting dogs to participate in the study.
“We can now test Manchester Terrier and English Toy Terrier dogs for this SCDY variant in order to help breeders prevent any mating that may result in affected puppies. This test has essentially eliminated the devastating situation in which an apparently healthy puppy dies of SCDY without warning.
He discovery also advances human medicine. “ABCC9 variants have been identified in cases of sudden infant death, but there were too few cases to be sure that this gene plays a role in the disease. Our study findings help confirm that ABCC9 is a susceptibility gene for SCDY and dilated cardiomyopathy, ultimately helping clinicians diagnose these conditions and perhaps one day work to prevent them.”
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