Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.
Valentino
Maria Lucia
ML
Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.
Avoni
Patrizia
P
Barboni
Piero
P
Pallotti
Francesco
F
Rengo
Chiara
C
Torroni
Antonio
A
Bellan
Marzio
M
Baruzzi
Agostino
A
Carelli
Valerio
V
D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014794:Visual Fields
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I