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: B Obermaier-Kusser, I Paetzke-Brunner, C Enter, J Müller-Höcker, S Zierz, W Ruitenbeek, K D Gerbitz
• Journal: FEBS letters (FEBS Lett) Vol. 286 Issue 1-2 Pg. 67-70 (Jul 29 1991) ISSN: 0014-5793 [Print] England
• PMID: 1713858 (Publication Type: Case Reports, Journal Article)

Chemical References

• RNA, Mitochondrial
• RNA, Transfer, Leu
• RNA
• Oxidoreductases
• Deoxyribonucleases, Type II Site-Specific
• GGGCCC-specific type II deoxyribonucleases

Topics

• Acidosis, Lactic (complications, genetics, metabolism)
• Adult
• Blotting, Southern
• Brain Diseases (complications, genetics, metabolism)
• Cerebrovascular Disorders (complications, genetics, metabolism)
• Deoxyribonucleases, Type II Site-Specific (metabolism)
• Humans
• Male
• Mitochondria (metabolism)
• Mutation
• Oxidoreductases (metabolism)
• Oxygen Consumption
• RNA (genetics)
• RNA, Mitochondrial
• RNA, Transfer, Leu (genetics)
• Syndrome