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
N1 - Funding Information:
The authors would like to express their thanks to Dr. J.-I. Hayashi of Tsukuba University for providing a mutant cybrid cell line possessing mtDNA with the A8344G mutation. This work was supported by a Grant-in-Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports and Culture (Japan).
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
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U2 - 10.1016/S0014-5793(00)01145-5
DO - 10.1016/S0014-5793(00)01145-5
M3 - Article
C2 - 10675533
AN - SCOPUS:0033968067
SN - 0014-5793
VL - 467
SP - 175
EP - 178
JO - FEBS Letters
JF - FEBS Letters
IS - 2-3
ER -