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Li, F.Y. et al.

Li, Cuddon, Song, Wood, Patterson, Shelton, Duncan,

Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b.

Two families of dogs (Australian cattle dogs and Shetland sheepdogs) with an inherited "spongiform leukoencephalomyelopathy" were identified, with widespread vacuolation of white matter of the brain and spinal cord. Affected dogs of both breeds developed tremors at 2-9 weeks of age followed by progressive neurological worsening with ataxia, paresis, paralysis, spasticity, and cranial nerve dysfunction. The modes of inheritance of both families were most likely maternal. The cerebrospinal fluid (CSF) analysis showed elevated ratio of 3-OH butyrate to acetoacetic acid. Mitochondrial DNA sequencing showed a G to A transition at 14,474 nt (G14474A, GenBank accession no. NC002008 ) that results in an amino acid change of valine-98 to methionine (V98M) of mitochondrial encoded cytochrome b. Western blot analysis showed increased levels of core I and core II but decreased level of cytochrome c1 of the complex III and cytochrome c oxidase of the complex IV of the respiratory chain.[1]

References

Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Li, F.Y., Cuddon, P.A., Song, J., Wood, S.L., Patterson, J.S., Shelton, G.D., Duncan, I.D. Neurobiol. Dis. (2006) [Pubmed]

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