Gene mutation troponin-T (TNNT2) implicated in HCM in Maine Coon cats

It is well established that Maine Coon cats can suffer from hypertrophic cardiomyopathy (HCM). Incidentally, in addition to that heart disease there appears to be a connection between this cat breed and a condition called pectus excavatum. There is certainly a connection to this breed with patella luxation and hip dysplasia (joint problems). It’s a great shame that such a wonderful cat breed has these inherited health problems. But, it appears, something is being done about it. There is some research being carried out at the University of Cincinnati College of Medicine.

Freddie a Maine Coon who carries a mutated gene causing HCM.  This is Kathy Janson's husband Michael and Freddie
Freddie a Maine Coon who carries a mutated gene causing HCM. This is Kathy Janson’s husband Michael and Freddie. Freddie is a calico cat and therefore female incidentally unless he is one of those rare exceptions. Photo: Credit: University of Cincinnati.
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They have been investigating variants of the heart gene cardiac myosin binding protein-C and its role in the development of HCM in humans which occurs at a rate of one in 500, incidentally.

The man involved is Sakthivel Sadayappan, Ph.D., professor in the UC College of Medicine. He is an expert on heart disease in people and he has turned his attentions to the Maine Coon cat. He’s been working in collaboration with a Maine Coon cat lover and enthusiast whose name is Kathy Janson. She reached out to the University of Cincinnati researcher for help because her cats were developing heart troubles.

She had became alarmed when one of her Maine Coons, Reggie, a blonde and glamorous creature was suddenly diagnosed with HCM. This disease causes a thickening of the heart walls resulting in heart failure and other complications such as blood clots. About 30% of cats in this breed are predisposed to this disease.

Sadayappan and his associate McNamara were able to identify a mutation in a gene called troponin-T (TNNT2) in a Maine Coon cat, Freddie, living with Janson. This gene regulates the way the heart contracts. Freddie acquired the genetic mutation from both parents who each carried one copy of troponin-T (TNNT2).

He says that the gene is linked to sudden cardiac death in people and that it is involved in regulating calcium in the heart which in turn regulates the pumping action of the heart.

They consider the research exciting and that they should be looking for other proteins that may also cause disease. But the research has important implications for the future. And their research might serve as a model for other researchers looking for better treatments for HCM in humans.

I would have thought, as a layperson, that if they know of the genetic mutation which contributes or causes HCM in Maine Coon cats that they would be able to devise a test to isolate this gene and eliminate the cats who carry it from breeding lines. Perhaps the Cat Fanciers’ Association (CFA) and TICA and other associations might be involved in this? Their primary objective should be the health of the cats registered with their associations.

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