Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR)]

FEBS Letters

Paetzke-Brunner, I.²  Müller-Höcker, J.¹  Obermaier-Kusser, B.²  Enter, C.²  Ruitenbeek, W.⁴  Gerbitz, K.-D.²  Zierz, S.³ 

[1] Pathologisches Institut der Universität München, München, Germany;Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, München, Germany;Neurologische Klinik der Universität Bonn, Bonn, Germany;Department of Pediatrics, University of Nijmegen, Nijmegen, The Netherlands

关键词: Myopathy;    Encephalopathy;    MELAS;    Mitochondrial DNA mutation;    Respiratory chain;    bp;    base pairs;    CPEO;    chronic progressive external opthalmoplegia;    MELAS;    mitochondrial myopathy;    encephalopathy;    lactic acidosis and stroke-like episodes;    MERRF;    myoclonic epilepsy with ragged red fibers;    mt;    mitochondrial;   

DOI  :  10.1016/0014-5793(91)80942-V

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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.

【 授权许可】

Unknown