title: Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].
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.
authors.affiliation: Institute für Klinische Chemie und Diabetesforschung, Städt, Krankenhaus München-Schwabing, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Obermaier-Kusser
authors.forename: I
authors.initials: I
authors.lastname: Paetzke-Brunner
authors.forename: C
authors.initials: C
authors.lastname: Enter
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: S
authors.initials: S
authors.lastname: Zierz
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
mesh_terms: 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
chemical_list: D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA; D010088:Oxidoreductases; D015252:Deoxyribonucleases, Type II Site-Specific; C038485:GGGCCC-specific type II deoxyribonucleases