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Article

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

Cell death & disease - 28 Jul 2016

Kushnareva Y, Seong Y, Andreyev A Y, Kuwana T, Kiosses W B, Votruba M, Newmeyer D D

Abstract excerpt

Mutations in the opa1 (optic atrophy 1) gene lead to autosomal dominant optic atrophy (ADOA), a hereditary eye disease. This gene encodes the Opa1 protein, a mitochondrial dynamin-related GTPase required for mitochondrial fusion and the maintenance of normal crista structure. The majority of opa1 mutations encode truncated forms of the protein, lacking a complete GTPase domain. It is unclear whether the phenotype...

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Identifiers

PMID: 27468686
DOI: 10.1038/cddis.2016.160
PMCID: PMC4973340

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