title: Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778.
abstract: We examined for mitochondrial DNA (mtDNA) mutations at nucleotide positions(nt) 3460, 14,484, 9438, 9804, and 15,257 in ten Japanese patients with idiopathic optic neuropathy unassociated with a mutation at nt11,778. The mtDNAs were amplified by polymerase chain reaction (PCR), the products were digested with restriction enzymes, and the sizes of the fragments were analyzed on 8% polyacrylamide gel. Of the ten patients, one had an mtDNA mutation at nt3460 and another patient had a mutation at nt14,484. We suggest that mtDNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nt11,778 should be further investigated.
authors.affiliation: Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan. g5410105@ms.toyama-mpu.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
authors.forename: T
authors.initials: T
authors.lastname: Fujimaki
authors.forename: M
authors.initials: M
authors.lastname: Takeda
authors.forename: N
authors.initials: N
authors.lastname: Ishida
authors.forename: S
authors.initials: S
authors.lastname: Endo
authors.forename: A
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D015252:Deoxyribonucleases, Type II Site-Specific; C024405:GATC-specific type II deoxyribonucleases