Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?
Open Access
- 13 June 2007
- journal article
- review article
- Published by Portland Press Ltd. in Bioscience Reports
- Vol. 27 (1-3) , 173-184
- https://doi.org/10.1007/s10540-007-9045-0
Abstract
Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.Keywords
This publication has 66 references indexed in Scilit:
- Mitochondrial ophthalmologyPublished by Taylor & Francis ,2006
- Mitochondrial DNA content is decreased in autosomal dominant optic atrophyNeurology, 2005
- Mitochondrial dysfunction as a cause of optic neuropathiesProgress in Retinal and Eye Research, 2004
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophyNature Genetics, 2000
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28Nature Genetics, 2000
- Genetic Heterogeneity of Dominant Optic Atrophy, Kjer TypeArchives of Ophthalmology (1950), 1999
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988
- Ophthalmoscopic Findings in Leber's Hereditary Optic NeuropathyArchives of Ophthalmology (1950), 1983
- Ophthalmoscopic Findings in Leber's Hereditary Optic NeuropathyArchives of Ophthalmology (1950), 1982
- Maternal inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences, 1980