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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Apoptosis / genetics
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Apoptosis / physiology
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DNA, Mitochondrial / genetics
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Electron Transport Complex I / genetics
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Electron Transport Complex I / metabolism
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Humans
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Mitochondrial Diseases / genetics
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Mitochondrial Diseases / metabolism
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Mitochondrial Diseases / pathology*
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Models, Biological
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Mutation
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Optic Atrophy, Autosomal Dominant / genetics
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Optic Atrophy, Autosomal Dominant / metabolism
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Optic Atrophy, Autosomal Dominant / pathology*
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Optic Atrophy, Hereditary, Leber / genetics
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Optic Atrophy, Hereditary, Leber / metabolism
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Optic Atrophy, Hereditary, Leber / pathology*
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Optic Nerve Diseases / genetics
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Optic Nerve Diseases / metabolism
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Optic Nerve Diseases / pathology*
Substances
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DNA, Mitochondrial
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Electron Transport Complex I