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

研究成果: Contribution to journalArticle査読

59 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)2948-2952
ページ数5
ジャーナルFEBS Letters
579
13
DOI
出版ステータス出版済み - 5 23 2005
外部発表はい

All Science Journal Classification (ASJC) codes

  • 生物理学
  • 構造生物学
  • 生化学
  • 分子生物学
  • 遺伝学
  • 細胞生物学

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