Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].
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.
Obermaier-Kusser
B
B
Institute für Klinische Chemie und Diabetesforschung, Städt, Krankenhaus München-Schwabing, Germany.
Paetzke-Brunner
I
I
Enter
C
C
Müller-Höcker
J
J
Zierz
S
S
Ruitenbeek
W
W
Gerbitz
K D
KD
D000140:Acidosis, Lactic / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D015139:Blotting, Southern; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002561:Cerebrovascular Disorders / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D009154:Mutation; D010088:Oxidoreductases / Q000378:metabolism; D010101:Oxygen Consumption; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*; D013577:Syndrome
D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA; D010088:Oxidoreductases; D015252:Deoxyribonucleases, Type II Site-Specific; C038485:GGGCCC-specific type II deoxyribonucleases