MITOCHONDRIAL-DNA MUTATIONS AT NUCLEOTIDE POSITIONS 3243 AND 3271 IN MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES - A COMPARATIVE-STUDY

被引：41

作者：

SAKUTA, R ^{[1
]}

GOTO, Y ^{[1
]}

HORAI, S ^{[1
]}

NONAKA, I ^{[1
]}

机构：

[1] NATL INST GENET,DEPT HUMAN GENET,MISHIMA,SHIZUOKA 411,JAPAN

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1993年 / 115卷 / 02期

关键词：

MITOCHONDRIAL MYOPATHY; MELAS; MITOCHONDRIAL DNA (MUSCLE); MUTATION; 3243; AND; 3271;

D O I：

10.1016/0022-510X(93)90219-O

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Of 50 patients with the clinical characteristics of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), 38 had a point mutation at nucleotide position (nt) 3243 in the tRNA(Leu(UUR)) region in mitochondrial DNA and 6 at nt 3271 in the same tRNA(Leu(UUR)) gene. Except for the later onset of the disease in the patients with the 3271 mutation, there were no clinical, biochemical and pathological differences between the two groups. Since the nt 3271 region is not located in the binding site for mitochondrial transcription termination (mTERM) factor, which has been proposed to be defective in the 3243 mutation, a functional defect in tRNA itself might be responsible for the enzyme defects in MELAS patients; however the mechanism by which the defective tRNA(Leu(UUR)) induces the stroke-like episodes remains to be clarified.

引用

页码：158 / 160

页数：3

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