title: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
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.
authors.affiliation: Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
authors.forename: D C
authors.initials: DC
authors.lastname: Wallace
authors.forename: G
authors.initials: G
authors.lastname: Singh
authors.forename: M T
authors.initials: MT
authors.lastname: Lott
authors.forename: J A
authors.initials: JA
authors.lastname: Hodge
authors.forename: T G
authors.initials: TG
authors.lastname: Schurr
authors.forename: A M
authors.initials: AM
authors.lastname: Lezza
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
authors.forename: E K
authors.initials: EK
authors.lastname: Nikoskelainen
mesh_terms: D000818:Animals; D001120:Arginine; D044383:Black People; D003579:Cytochrome Reductases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005796:Genes; D005845:Georgia; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006639:Histidine; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D012016:Reference Values; D044465:White People; D001741:Black or African American
chemical_list: D004272:DNA, Mitochondrial; D046911:Macromolecular Substances; D006639:Histidine; D001120:Arginine; D003579:Cytochrome Reductases; D009245:NADH Dehydrogenase