publication . Other literature type . Article . 2000

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre; Guy Lenaers; Jean-Michel Griffoin; Nadine Gigarel; Corinne Lorenzo; Pascale Belenguer; Laetitia Pelloquin; Josiane Grosgeorge; Claude Turc-Carel; Eric Perret; ...
  • Published: 01 Oct 2000
  • Publisher: Springer Science and Business Media LLC
Abstract
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals1, 2, 3 that features progressive loss in visual acuity leading, in many cases, to legal blindness4, 5, 6, 7, 8. Phenotypic variations5 and loss of retinal ganglion cells9, 10, as found in Leber hereditary optic neuropathy (LHON), have suggested possible mitochondrial impairment11, 12. The OPA1 gene has been localized to 3q28−q29 (refs 13, 14, 15, 16, 17, 18, 19). We describe here a nuclear
Subjects
Medical Subject Headings: eye diseasesgenetic structuressense organs
free text keywords: Ophthalmology, Medicine, business.industry, business, Nuclear gene, Diabetes mellitus, medicine.disease, Dynamin, Atrophy, HSPA9, Genetics, mitochondrial fusion, Mitochondrial inner membrane fusion, Molecular biology, MFN2, MFN1, Mitochondrial optic neuropathies, Mitochondrial fission, Optic Atrophy 1, Mitochondrial fission factor, Biology
Abstract
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals1, 2, 3 that features progressive loss in visual acuity leading, in many cases, to legal blindness4, 5, 6, 7, 8. Phenotypic variations5 and loss of retinal ganglion cells9, 10, as found in Leber hereditary optic neuropathy (LHON), have suggested possible mitochondrial impairment11, 12. The OPA1 gene has been localized to 3q28−q29 (refs 13, 14, 15, 16, 17, 18, 19). We describe here a nuclear
Subjects
Medical Subject Headings: eye diseasesgenetic structuressense organs
free text keywords: Ophthalmology, Medicine, business.industry, business, Nuclear gene, Diabetes mellitus, medicine.disease, Dynamin, Atrophy, HSPA9, Genetics, mitochondrial fusion, Mitochondrial inner membrane fusion, Molecular biology, MFN2, MFN1, Mitochondrial optic neuropathies, Mitochondrial fission, Optic Atrophy 1, Mitochondrial fission factor, Biology
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publication . Other literature type . Article . 2000

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre; Guy Lenaers; Jean-Michel Griffoin; Nadine Gigarel; Corinne Lorenzo; Pascale Belenguer; Laetitia Pelloquin; Josiane Grosgeorge; Claude Turc-Carel; Eric Perret; ...