Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation

Takehiro Yasukawa, Tsutomu Suzuki, Norie Ishii, Takuya Ueda, Shigeo Ohta, Kimitsuna Watanabe

Research output: Contribution to journalArticle

92 Citations (Scopus)

Abstract

A mitochondrial tRNA(Lys) gene mutation at nucleotide position 8344 is responsible for the myoclonus epilepsy associated with ragged-red fibers (MERRF) subgroup of mitochondrial encephalomyopathies. Here, we show that normally modified uridine at the anticodon wobble position remains unmodified in the purified mutant tRNA(Lys). We have reported a similar modification defect at the same position in two mutant mitochondrial tRNAs(Leu)(UUR) in another subgroup, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), indicating this defect is common in the two kinds of tRNA molecules with the respective mutations of the two major mitochondrial encephalomyopathies. We therefore suggest the defect in the anticodon is responsible, through the translational process, for the pathogenesis of mitochondrial diseases. Copyright (C) 2000 Federation of European Biochemical Societies.

Original languageEnglish
Pages (from-to)175-178
Number of pages4
JournalFEBS Letters
Volume467
Issue number2-3
DOIs
Publication statusPublished - 2000 Feb 11

Keywords

  • Anticodon
  • Cybrid
  • Mitochondrial disease
  • Mitochondrial tRNA
  • Post-transcriptional modification

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation'. Together they form a unique fingerprint.

  • Cite this