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

90 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
Externally publishedYes

Fingerprint

MERRF Syndrome
RNA, Transfer, Lys
Mitochondrial Encephalomyopathies
Anticodon
Nucleotides
RNA, Transfer, Leu
MELAS Syndrome
Myoclonic Epilepsy
Mitochondrial Diseases
Defects
Mutation
Fibers
Uridine
Transfer RNA
Genes
Molecules

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation. / Yasukawa, Takehiro; Suzuki, Tsutomu; Ishii, Norie; Ueda, Takuya; Ohta, Shigeo; Watanabe, Kimitsuna.

In: FEBS Letters, Vol. 467, No. 2-3, 11.02.2000, p. 175-178.

Research output: Contribution to journalArticle

Yasukawa, Takehiro ; Suzuki, Tsutomu ; Ishii, Norie ; Ueda, Takuya ; Ohta, Shigeo ; Watanabe, Kimitsuna. / Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation. In: FEBS Letters. 2000 ; Vol. 467, No. 2-3. pp. 175-178.
@article{1b22dff6c546467ca8e92e68f5dea80a,
title = "Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation",
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.",
keywords = "Anticodon, Cybrid, Mitochondrial disease, Mitochondrial tRNA, Post-transcriptional modification",
author = "Takehiro Yasukawa and Tsutomu Suzuki and Norie Ishii and Takuya Ueda and Shigeo Ohta and Kimitsuna Watanabe",
year = "2000",
month = "2",
day = "11",
doi = "10.1016/S0014-5793(00)01145-5",
language = "English",
volume = "467",
pages = "175--178",
journal = "FEBS Letters",
issn = "0014-5793",
publisher = "Elsevier",
number = "2-3",

}

TY - JOUR

T1 - Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation

AU - Yasukawa, Takehiro

AU - Suzuki, Tsutomu

AU - Ishii, Norie

AU - Ueda, Takuya

AU - Ohta, Shigeo

AU - Watanabe, Kimitsuna

PY - 2000/2/11

Y1 - 2000/2/11

N2 - 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.

AB - 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.

KW - Anticodon

KW - Cybrid

KW - Mitochondrial disease

KW - Mitochondrial tRNA

KW - Post-transcriptional modification

UR - http://www.scopus.com/inward/record.url?scp=0033968067&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033968067&partnerID=8YFLogxK

U2 - 10.1016/S0014-5793(00)01145-5

DO - 10.1016/S0014-5793(00)01145-5

M3 - Article

C2 - 10675533

AN - SCOPUS:0033968067

VL - 467

SP - 175

EP - 178

JO - FEBS Letters

JF - FEBS Letters

SN - 0014-5793

IS - 2-3

ER -