title: OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.
abstract: OBJECTIVE
  To report mutations in the OPA1 gene in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.
  
  
  METHODS
  Twelve unrelated patients with bilateral optic atrophy and 100 healthy controls were examined. Each exon of the OPA1 gene was amplified by polymerase chain reaction (PCR). All PCR products were sequenced.
  
  
  RESULTS
  Of the 12 patients, 2 had nonsense mutations of the OPA1 gene (nt 1039G --> T and nt 1096C --> T, leading to Glu347Stop and Arg366Stop, respectively). These nonsense mutations were not found in the 100 healthy controls. Two of the patients had silent mutations of OPA1 gene (nt 1177T --> G and nt 1923G --> A causing no amino acid change).
  
  
  CONCLUSIONS
  The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients.
authors.affiliation: Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Toyama, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Yamada
authors.forename: Seiji
authors.initials: S
authors.lastname: Hayasaka
authors.forename: Masayuki
authors.initials: M
authors.lastname: Matsumoto
authors.lastname: Budu
authors.forename: Tenri
authors.initials: T
authors.lastname: Esa
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Hayasaka
authors.forename: Machi
authors.initials: M
authors.lastname: Endo
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Nagaki
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D020125:Mutation, Missense; D009896:Optic Atrophy / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human