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Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome
B Obermaier-Kusser1, I Paetzke-Brunner, C Enter
1Institute für Klinische Chemie und Diabetesforschung, Städt, Krankenhaus München-Schwabing, Germany.
FEBS Letters
|July 29, 1991
Abstract:
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.