RESPIRATORY-CHAIN ACTIVITY IN TISSUES FROM PATIENTS (MELAS) WITH A POINT MUTATION OF THE MITOCHONDRIAL GENOME [TRANSFER RNALEU(UUR)]

被引：38

作者：

OBERMAIERKUSSER, B

PAETZKEBRUNNER, I

ENTER, C

MULLERHOCKER, J

ZIERZ, S

RUITENBEEK, W

GERBITZ, KD

机构：

[1] STADT KRANKENHAUS,INST KLIN CHEM & DIABET FORSCH,KOLNER PL 1,W-8000 MUNICH 40,GERMANY

[2] UNIV MUNICH,INST PATHOL,W-8000 MUNICH 2,GERMANY

[3] UNIV BONN,NEUROL KLIN,W-5300 BONN 1,GERMANY

[4] CATHOLIC UNIV NIJMEGEN,NIJMEGEN,NETHERLANDS

来源：

FEBS LETTERS | 1991年 / 286卷 / 1-2期

关键词：

MYOPATHY; ENCEPHALOPATHY; MELAS; MITOCHONDRIAL DNA MUTATION; RESPIRATORY CHAIN;

D O I：

10.1016/0014-5793(91)80942-V

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 heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNA Leu(UUR) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.

引用

页码：67 / 70

页数：4

共 19 条

[1]

DROUIN I, 1980, J MOL BIOL, V140, P341

[2]

ENTER T, 1990, UNPUB BIOCH BIOPHYS

[3]

GERBITZ KD, 1990, J CLIN CHEM CLIN BIO, V28, P241

[4] MITOCHONDRIAL MYOPATHIES - DIVERGENCES OF GENETIC DELETIONS, BIOCHEMICAL DEFECTS AND THE CLINICAL SYNDROMES [J].