Journal
NATURE GENETICS
Volume 26, Issue 2, Pages 207-210Publisher
NATURE AMERICA INC
DOI: 10.1038/79936
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Optic: atrophy type 1 (OPA1. MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50.000 individuals(1-3) that features progressive loss in visual acuity leading, in many cases, to legal blindness(4-8). Phenotypic variations(5) and loss of retinal ganglion cells(9,10), as found in Leber hereditary optic neuropathy (LHON), have suggested possible mitochondrial impairment(11,12). The OPA1 gene has been localized to 3q28-q29 (refs 13-19). We describe here a nuclear gene, OPA1, that maps within the candidate region and encodes a dynamin-related protein localized to mitochondria. We found four different OPA1 mutations, including frameshift and missense mutations, to segregate with the disease, demonstrating a role for mitochondria in retinal ganglion cell pathophysiology.
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