title: Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.
abstract: Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNA(Leu(UUR)) with a MELAS A3243G mutation and mt tRNA(Lys) with a MERRF A8344G mutation derived from HeLa background cybrid cells are deficient in normal taurine-containing modifications [taum(5)(s(2))U; 5-taurinomethyl-(2-thio)uridine] at the anticodon wobble position in both cases. The wobble modification deficiency results in defective translation. We report here wobble modification deficiencies of mutant mt tRNAs from cybrid cells with different nuclear backgrounds, as well as from patient tissues. These findings demonstrate the generality of the wobble modification deficiency in mutant tRNAs in MELAS and MERRF.
authors.affiliation: Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, Japan.
authors.forename: Takehiro
authors.initials: T
authors.lastname: Yasukawa
authors.forename: Yohei
authors.initials: Y
authors.lastname: Kirino
authors.forename: Norie
authors.initials: N
authors.lastname: Ishii
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Holt
authors.forename: Howard T
authors.initials: HT
authors.lastname: Jacobs
authors.forename: Takao
authors.initials: T
authors.lastname: Makifuchi
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Fukuhara
authors.forename: Shigeo
authors.initials: S
authors.lastname: Ohta
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Kimitsuna
authors.initials: K
authors.lastname: Watanabe
mesh_terms: D001483:Base Sequence; D006367:HeLa Cells; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D015347:RNA Probes; D012343:RNA, Transfer / Q000737:chemistry / Q000235:genetics*
chemical_list: D015347:RNA Probes; D012343:RNA, Transfer