Researchers Find Gene Linked to Heart Disease in Golden Retrievers

Lisa Selvaggio
by Lisa Selvaggio

Hypertrophic cardiomyopathy (HCM) is a type of heart disease that can affect 1 in 7 cats and 1 in 500 humans. Though it used to be considered rare in dogs, researchers have found a genetic mutation that can cause this disease in Golden Retrievers.

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When HCM occurs, the heart doesn’t function like it should because the left ventricular muscle becomes abnormally thick. The disease is associated with arrhythmias and an increased risk of blood clots. HCM can also lead to heart failure, and it can result in sudden death. Some animals develop symptoms, while others remain asymptomatic.


Finding a Genetic Mutation Behind HCM


How did the researchers figure out the genetic mutation that is associated with HCM in Golden Retrievers? They analyzed the whole genome sequences of three Golden Retriever puppies who had experienced sudden cardiac death. The three pups were related to each other, and they were under 2 years old.


Experts compared the puppies’ sequences to those from other dogs they were related to, as well as genetic sequences from more than 2,500 dogs of other breeds who were not related to the pups. They even compared the sequences to those from coyotes and wolves.


The researchers found a genetic variant in the gene Cardiac Troponin-I or TNNI3. It’s specific to the Golden Retriever. Also, this mutation is autosomal recessive. Therefore, HCM occurs when a copy from each parent is present. For the three puppies who died, it was determined that the parents carried a copy of the mutation even though they had normal hearts.


Knowing about the TNNI3 variant might help prevent HCM by only breeding Golden Retrievers who aren’t carriers—genotype testing can show which dogs are carriers. Beyond that, this research may also be used to better understand HCM in humans, so it can benefit both dogs and people.


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Lisa Selvaggio
Lisa Selvaggio

Lisa Selvaggio is a freelance writer and editor, and our resident cats-pert, with certifications in pet nutrition and pet first aid. She enjoys producing content that helps people understand animals better so they can give their pets a safe and happy home.

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