Sensory Ataxic Neuropathy
Gene: mito tRNAtyr, MTTY
Transmission: Mitochondrial DNA
Mitochondrial DNA is inherited from the mother. An affected mother transmits the disease to all of her descendants. An affected father does not transmit the disease.
Mutation: Deletion, MTTY gene (tRNATyr); c.5304 del.A
Medical system: Neurological
Breed: Golden Retriever, Goldendoodle
Age of onset of symptoms: Around the age of 2 to 8 months
Sensory ataxic neuropathy is a neurological disease that affects Golden Retrievers. Puppies start to show neurological signs around 2 to 8 months which include muscle incoordination, abnormal gait, and difficulty in keeping their balance especially in the hind legs. This condition is not painful, but affected animals are often euthanized before the age of 3 years. The heredity of this disease is unusual in that it is only passed on from the mother, never from the father.
References:
OMIA link: [1467-9615]
Tkaczyk-Wlizło A, Kowal K, Ślaska B. (2022) Mitochondrial DNA alterations in the domestic dog (Canis lupus familiaris) and their association with development of diseases: A review. Mitochondrion 63:72-84. [pubmed/35134592]
Baranowska I, Hultin Jaderlund K, Nennesmo I, et al. (2009) Sensory ataxic neuropathy in Golden Retriever dogs is caused by a deletion in the mitochondrial tRNAtyr gene. PloS Genetics 5(5):e1000499. [pubmed/19492087]