MITOCHONDRIAL TRANSFER RNAILE MUTATION IN FATAL CARDIOMYOPATHY

被引：158

作者：

TANIIKE, M ^{[1
]}

FUKUSHIMA, H ^{[1
]}

YANAGIHARA, I ^{[1
]}

TSUKAMOTO, H ^{[1
]}

TANAKA, J ^{[1
]}

FUJIMURA, H ^{[1
]}

NAGAI, T ^{[1
]}

SANO, T ^{[1
]}

YAMAOKA, K ^{[1
]}

INUI, K ^{[1
]}

OKADA, S ^{[1
]}

机构：

[1] OSAKA UNIV,SCH MED,DEPT NEUROL,SUITA,OSAKA 565,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1992年 / 186卷 / 01期

关键词：

D O I：

10.1016/S0006-291X(05)80773-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A patient with mitochondrial encephalomyopathy who died from progressive intractable cardiac failure at the age of 18 is reported. At the age of 4, he presented with short stature, but multiorgan disorders including deafness, focal glomerulosclerosis, epilepsy and dilated cardiomyopathy appeared later in his clinical course. Laboratory tests showed hyperlactatemia and hyperpyruvatemia. Histopathological findings demonstrated mitochondrial myopathy with ragged red fibers and focal cytochrome C oxidase-deficient fibers in skeletal and cardiac muscles. The activity of cytochrome C oxidase was 30% less than the control level in skeletal muscle. Sequencing of the entire mitochondrial tRNA genome revealed a novel point mutation in the tRNAlle region (nt 4269). This A-to-G substitution was found in none of the 30 controls by screening using mispairing PCR and Ssp I digestion methods, suggesting that this new mutation was pathogenic in our case. © 1992 Academic Press, Inc.

引用

页码：47 / 53

页数：7

共 17 条

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