title: Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.
abstract: Accumulation of RNA 19 has been associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. We analyzed total RNA in muscle specimens from six patients who had one of three pathogenetic point mutations in the mitochondrial tRNA(Leu(UUR)) gene, including A3243G, T3271C, and T3303C. Mitochondrial processing intermediates were identified and quantitated by Northern blotting. The percentage of DNA with the mutation also was determined in each patient. The intermediate (RNA 19) was significantly increased in all patients. The proportion of mutation-carrying RNA in processing intermediates was always higher than in the DNA fraction, suggesting that these mutations may have dominant-negative effects on mitochondrial RNA processing events at the tRNA(Leu(UUR)) gene boundary.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-Machi, Kurume, Fukuoka 830-0011, Japan
authors.forename: Atsuko
authors.initials: A
authors.lastname: Koga
authors.forename: Yasutoshi
authors.initials: Y
authors.lastname: Koga
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Akita
authors.forename: Ryo
authors.initials: R
authors.lastname: Fukiyama
authors.forename: Isao
authors.initials: I
authors.lastname: Ueki
authors.forename: Shuichi
authors.initials: S
authors.lastname: Yatsuga
authors.forename: Toyojiro
authors.initials: T
authors.lastname: Matsuishi
mesh_terms: D015152:Blotting, Northern / Q000379:methods; D001921:Brain / Q000378:metabolism; D001927:Brain Diseases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006321:Heart; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics*; D012313:RNA / Q000378:metabolism; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*; D013154:Spleen / Q000378:metabolism; D014599:Uterus / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA