A new discovery in 2 breeds advances human medicine

A Manchester Terrier stands on a field of grass

Study Source: Sudden Cardiac Death in young dogs

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.

A Manchester Terrier stands on a field of grass
The Manchester Terrier

Sudden Cardiac Death in the Young

Sudden cardiac death of the young (SCDY), or sudden unexplained death, occurs when a young, apparently healthy person dies suddenly from a cardiac arrest or an unknown cause. (SCDY does not include deaths related to drugs, trauma, suicide, homicide, or long illness.) 

It’s a relatively rare disease but considering it’s in young people as young as 1 years of age is especially devastating to families.

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 so advances into this research is extremely slow.

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Sharing a disease with dogs

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.

Any discovery where dogs and humans share a disease immediately increases the research data available to perform studies on, so this discovery is exciting to researchers.

Gene wide association study

Researchers sought to identify the gene responsible for SCDY in 2 identified breeds(Manchester Terrier & English Toy Terriers) 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.

Basically, researchers scanned the massive dog DNA database looking for specific genetic markers for SCDY and came up with a perfect genetic match in the Manchester Terrier and English Toy Terriers.

This allows researchers to pinpoint the location of disease-causing variants in a specific gene called ABCC9 in humans.

The medical impact

This research can now be passed to Veterinarians who can notify breeders to test their dogs for the gene variant. 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.”

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