title: Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.
abstract: We documented the presence of a point mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA) in various postmortem tissues from two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF). The percentages of the mutant mtDNA were similar (93 to 99%) in both clinically affected and unaffected tissues, suggesting that preferential clinical involvement of certain tissues in MERRF is based not only on the variation of distribution of the mutant mtDNA, but also on other factors such as differences in the threshold in various CNS regions and organs.
authors.affiliation: Department of Internal Medicine, National Sanatorium Nishi-Ojiya Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tanno
authors.forename: M
authors.initials: M
authors.lastname: Yoneda
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: R
authors.initials: R
authors.lastname: Kondo
authors.forename: I
authors.initials: I
authors.lastname: Hozumi
authors.forename: K
authors.initials: K
authors.lastname: Wakabayashi
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: N
authors.initials: N
authors.lastname: Fukuhara
authors.forename: F
authors.initials: F
authors.lastname: Ikuta
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D012357:RNA, Transfer, Lys / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys