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Article

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

FEBS letters - 29 Jul 1991

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

Abstract excerpt

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.

Topics

Acidosis, Lactic
Adult
Blotting, Southern
Brain Diseases
Cerebrovascular Disorders
Deoxyribonucleases, Type II Site-Specific
Humans
Male
Mitochondria
Mutation
Oxidoreductases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxygen Consumption

RNA

RNA, Mitochondrial

RNA, Transfer, Leu

Syndrome

Source

Identifiers

PMID: 1713858
DOI: 10.1016/0014-5793(91)80942-v

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1713858-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].PMID 1713858Read ↗

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Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).Semantic proximity Read ↗

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