Abstract
Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Arginine
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Black People
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Black or African American
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Cytochrome Reductases / genetics*
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DNA, Mitochondrial / genetics*
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Female
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Genes*
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Georgia
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Hereditary Sensory and Motor Neuropathy / genetics*
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Histidine
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Humans
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Macromolecular Substances
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Male
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Mutation*
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NADH Dehydrogenase / genetics*
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Optic Atrophies, Hereditary / genetics*
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Pedigree
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Reference Values
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White People
Substances
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DNA, Mitochondrial
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Macromolecular Substances
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Histidine
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Arginine
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Cytochrome Reductases
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NADH Dehydrogenase