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Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases
Author(s) -
Yasukawa Takehiro,
Kirino Yohei,
Ishii Norie,
Holt Ian J.,
Jacobs Howard T.,
Makifuchi Takao,
Fukuhara Nobuyoshi,
Ohta Shigeo,
Suzuki Tsutomu,
Watanabe Kimitsuna
Publication year - 2005
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2005.04.038
Subject(s) - wobble base pair , speed wobble , transfer rna , mutant , point mutation , mitochondrial dna , biology , microbiology and biotechnology , human mitochondrial genetics , mitochondrial disease , uridine , genetics , biochemistry , rna , gene , physics , classical mechanics
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 [ τ m 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.