Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA<sup>Leu(UUR)</sup>]
FEBS LettersPublished 29 July 1991
B. Obermaier–Kusser, I. Paetzke-Brunner, C. Enter, Josef Müller‐Höcker, S. Zierz, W. Ruitenbeek
Citations36
SJR quartileQ1
SJR score1.22
SNIP0.77
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TL;DR
A heteroplasmic point mutation at position 3243 in the mitochondrial tRNALeu(UUR) gene is indicative for myo‐encephalopathy with lactic acidosis and stroke‐like episodes (MELAS).
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.
Keywords
Biochemistry, Genetics and Molecular Biology
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