Image reproduced from PloS Genet. (Baranowska et al., 2009).

Mutations in human mitochondrial DNA (mtDNA) can cause diseases that affect a wide variety of organ systems, with the greatest pathogenic effects seen in energy-consuming tissues such as muscle. A research group from Sweden discovered a naturally occurring neurological disease in golden retrievers, sensory ataxic neuropathy (SAN), which is caused by a deletion of one base in the mitochondrial tRNA^Tyr gene. The careful pedigree records of the golden retriever breed allowed the researchers to identify a common ancestor of all SAN-affected dogs, traced back to the 1970s. Identification of this gene will not only allow elimination of this disease in golden retrievers through selective breeding, but it also establishes a new animal model in which to study the characteristics of myopathy associated with tRNA^Tyr mutation in humans.

Baranowska, I, Jäderlund, KH, Nennesmo, I, Holmqvist, E, Heidrich, N, Larsson, NG, Andersson, G, Wagner, EG, Hedhammar, A, Wibom, R, et al. 2009). Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNA^Tyr gene. PLoS Genet. 5, e1000499.OpenUrlPubMed