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      Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

      Science (New York, N.Y.)

      African Continental Ancestry Group, Animals, Arginine, Cytochrome Reductases, genetics, DNA, Mitochondrial, European Continental Ancestry Group, Female, Genes, Georgia, Hereditary Sensory and Motor Neuropathy, Histidine, Humans, Macromolecular Substances, Male, Mutation, NADH Dehydrogenase, Optic Atrophies, Hereditary, Pedigree, Reference Values

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          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.

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          3201231

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