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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
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Journal Article
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
2000
Overview
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals
1
,
2
,
3
that features progressive loss in visual acuity leading, in many cases, to legal blindness
4
,
5
,
6
,
7
,
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Atrophy
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Complications and side effects
/ Diseases of visual field, optic nerve, optic chiasma and optic tracts
/ Dynamins
/ Exons
/ Female
/ GTP Phosphohydrolases - chemistry
/ GTP Phosphohydrolases - genetics
/ Humans
/ Identification and classification
/ In Situ Hybridization, Fluorescence
/ letter
/ Male
/ Mutation
/ Pedigree
/ Proteins
/ Saccharomyces cerevisiae - genetics
