Testing of dogs: Hypomyelinating polyneuropathy

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Hypomyelinating polyneuropathy in Golden Retrievers

Hypomyelinating polyneuropathy is a genetic disease affecting the peripheral nervous system. It results in insufficient production of myelin sheath, causing muscle weakness, loss of reflexes and difficulty coordinating movements.

In Golden Retrievers, the disease is caused by a nonsense mutation c.1924C>T in the SH3TC2 gene, which plays an important role in the proper function of Schwann cells and myelination of nerve fibres or mutation c.1479+1G>A in the MTMR2 gene, which plays a role in maintaining the integrity of myelin.

The mode of inheritance of the mutations is probably autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

References:

Cook, S., Hooser, B.N., Williams, D.C., Kortz, G., Aleman, M., Minor, K., Koziol, J., Friedenberg, S.G., Cullen, J.N., Shelton, G.D., Ekenstedt, K.J. : Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy. Neuromuscul Disord 33:677-691, 2023. Pubmed reference: 37400349

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