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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network.[1]

References

  1. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Amati-Bonneau, P., Guichet, A., Olichon, A., Chevrollier, A., Viala, F., Miot, S., Ayuso, C., Odent, S., Arrouet, C., Verny, C., Calmels, M.N., Simard, G., Belenguer, P., Wang, J., Puel, J.L., Hamel, C., Malthièry, Y., Bonneau, D., Lenaers, G., Reynier, P. Ann. Neurol. (2005) [Pubmed]
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