A discovery in dogs advances human medicine

three daschund puppies in a field playing

Researchers at the University of Minnesota College of Veterinary Medicine (CVM) have identified a genetic variant linked to sudden cardiac death in the young (SCDY) in two related dog breeds. This devastating event results from an inherited form of dilated cardiomyopathy—when the heart becomes weakened and enlarged, making it unable to function properly. These new findings have implications for predicting SCDY and dilated cardiomyopathy in humans, too.

In humans, SCDY often has a genetic basis, but because the condition is rare, it is difficult for researchers to amass enough data to confirm that specific genetic variants are the cause of disease.

On the other hand, dog breeds that have undergone many generations of selective breeding have relatively little genetic diversity—including among genes that cause disease—making it far easier to identify variants linked to specific conditions. And because dogs share susceptibility genes for many inherited diseases with humans, including sudden cardiac death, canine models offer promising avenues for understanding the genetic basis of the condition in humans.

Manchester Terriers provide one such model, and the researchers led by Eva Furrow, associate professor of internal medicine at CVM, 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 disease. This allows researchers to pinpoint the location of disease-causing variants.

The researchers found a variant in a gene called ABCC9. Having two copies of this variant (one from each parent) had a perfect association with SCDY, supporting a causal role in the disease.

“We can now test Manchester Terrier and English Toy Terrier dogs for this SCDY variant in order to help breeders prevent any pairings that could result in affected puppies,” says Furrow. “This testing has essentially eliminated the devastating situation where a seemingly healthy puppy dies from SCDY with no warning.”

The discovery also advances human medicine. “Variants in ABCC9 have been identified in sudden infant death cases [in humans], but there were too few cases to be certain this gene plays a role in the disease,” says Furrow. “The findings of our study help confirm that ABCC9 is a susceptibility gene for SCDY and dilated cardiomyopathy, which ultimately helps clinicians diagnose these conditions and maybe one day work towards preventing them.”

This story was adapted from the original