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

C Delettre, G Lenaers, JM Griffoin, N Gigarel… - Nature …, 2000 - nature.com
C Delettre, G Lenaers, JM Griffoin, N Gigarel, C Lorenzo, P Belenguer, L Pelloquin
Nature genetics, 2000nature.com
Abstract 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 …
Abstract
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.
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