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.
Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.
Maria Lucia
ML
Valentino
Patrizia
P
Avoni
Piero
P
Barboni
Francesco
F
Pallotti
Chiara
C
Rengo
Antonio
A
Torroni
Marzio
M
Bellan
Agostino
A
Baruzzi
Valerio
V
Carelli
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