Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Takehiro Yasukawa, Yohei Kirino, Norie Ishii, Ian J. Holt, Howard T. Jacobs, Takao Makifuchi, Nobuyoshi Fukuhara, Shigeo Ohta, Tsutomu Suzuki, Kimitsuna Watanabe

Research output: Contribution to journalArticlepeer-review

70 Citations (Scopus)


Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNALeu(UUR) with a MELAS A3243G mutation and mt tRNALys with a MERRF A8344G mutation derived from HeLa background cybrid cells are deficient in normal taurine-containing modifications [τm5(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.

Original languageEnglish
Pages (from-to)2948-2952
Number of pages5
JournalFEBS Letters
Issue number13
Publication statusPublished - May 23 2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology


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