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what are they ? Why test?

The Maine Coon is a very popular cat in France. Its beauty and pleasant character are not for nothing! It is unfortunately subject to certain genetic diseases including the famous HCM or hypertrophic cardiomyopathy. These Maine Coon inherited diseases can be detected using readily available genetic tests.

Have you fallen for a Maine Coon? There is a good chance that you will not be disappointed by this magnificent cat, as comfortable in an apartment as in a house with a garden. When it comes to health, you naturally ask yourself questions. How to choose the right breeding? How can I put the odds on my side to welcome an animal in great shape? Learning about the diseases specific to the Maine Coon breed is already a good start.

What is a genetic disease in the Maine Coon?

A disease of genetic origin results from a mutation in one or more genes. Genes are contained in the nuclei of cells; they are made up of DNA and code for the different proteins that make up the cat’s body. If a code is wrong as a result of a mutation, the protein will be missing or faulty.

These diseases are transmitted from generation to generation in different ways:

  • The dominant mode: it only takes one parent carrying the gene to have a sick kitten with a probability of one in two in the siblings.
  • The recessive mode: both parents must be carriers of the mutated gene. In the litter, one out of 4 kittens (carrying the gene from the father and the mother) will be affected by the disease.

But it’s not always so simple… There are also genetic diseases depending on several genes, the environment or sex… Moreover, any carrier animal will not necessarily develop the disease with the same intensity.

Vladimir Poylov/Shutterstock

In the Maine Coon, there are 4 major hereditary diseases:

Maine Coon Hypertrophic Cardiomyopathy (HCM)

It is certainly the best known of the Maine Coon genetic diseases. This pathology is linked to an autosomal dominant mutation (on the non-sex chromosomes) of the MYBPC gene.

It results in an abnormal thickening of the muscle of the heart leading to heart failure at a variable age (from 1 to 10 years). The cat will then present fatigue and breathing difficulties. On auscultation by the veterinarian, a heart murmur is often audible. The precise diagnosis is made on ultrasound. Medications are available to slow the progression of heart failure.

There is a genetic test to determine if the cat is a carrier of the mutated gene. However, this test does not make it possible to presuppose the seriousness of the disease for this specific animal. On the other hand, there are other HCMs linked to other mutations or pathologies such as high blood pressure. A negative test therefore does not mean that your companion will never develop cardiomyopathy.

The frequency of this mutation in the Maine Coon population is estimated at 27%.

Other genetic diseases of the Main Coon

Autosomal recessive, it is a mutation on the PKLR gene. It causes a lack of the enzyme pyruvate kinase responsible for too rapid destruction of red blood cells. This results in anemia responsible for chronic fatigue. The severity of the disease varies from cat to cat.

The frequency of the mutation in French Maine Coons is not listed, but it is 12% in the United Kingdom and the USA.

Or spinal muscular atrophy. It appears in young kittens and results in muscle weakness and difficulty walking and jumping linked to a loss of neurons. The kittens remain handicapped for life. The mutation is autosomal recessive and the gene involved LIX1.

The mutated gene is present in 1% of Maine Coons. Given that both parents must be carriers of the mutation to give birth to a sick kitten (in 1 out of 4 cases), it is a rare disease.

It is a common polycystic kidney disease in certain cat breeds such as the Persian. It progresses to renal failure. In the Maine Coon, the percentage of carriers of the mutation (autosomal dominant on the PKD1 gene) is less than 1%.

Maine Coon genetic diseases: what are they?  Why test?
Gelner Tivadar/Shutterstock

Genetic testing in the Maine Coon

Genetic (or DNA) tests are performed on a sample of saliva or blood. They make it possible to determine whether the cat is a carrier of the mutated gene.

In farms, they are useful to rule out breeders carrying the mutation and risking transmitting it to their offspring. Regarding the Maine Coon, the LOOF (Official Book of Feline Origins) recommends carrying out DNA tests for HCM, PKDef and SMA. For certain recessive diseases such as SMA or PKDef, the tests make it possible to limit the risks by marrying a high-value heterozygous animal (carrier of a single mutated gene) with a healthy cat; The kittens will not be sick, but half will carry the defective gene and will have to be permanently excluded from breeding.

As an individual, and if his parents have not been tested, you can ask your veterinarian to take a sample from your animal for HCM, the most common genetic disease in Maine Coons.

Isabelle Vixege

veterinary doctor

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