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A novel point mutation in the mitochondrial tRNA Leu(UUR) gene in a family with mitochondrial myopathy
Author(s) -
Goto Yuichi,
Tojo Megumu,
Tohyama Jun,
Horai Satoshi,
aka Ikuya
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310617
Subject(s) - mitochondrial myopathy , heteroplasmy , mitochondrial dna , point mutation , biology , melas syndrome , lactic acidosis , mutation , microbiology and biotechnology , mitochondrion , myopathy , genetics , human mitochondrial genetics , gene , biochemistry
A T‐to‐C transition mutation at nucleotide position 3,250 in the mitochondrial tRNA Leu(UUR) gene was present in a family with mitochondrial myopathy. Two of three muscle biopsies examined had complex I (NADH‐ubiquinone oxidoreductase) deficiency. Heteroplasmy of wild and mutant mitochondrial DNA was detected by Nae I digestion of the polymerase chain reaction products with a modified primer. This was found in blood or muscle samples or both from all seven members examined. Similar to the 3,243 mutation in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes), the new mutation site was located in the dihydrouridine loop and embedded in the binding region of mitochondrial transcription termination factor. Elucidation of the effects of this mutation may help clarify the role of mitochondrial tRNAs and transcription termination.