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

FEBS Lett. 1991 Jul 29;286(1-2):67-70. doi: 10.1016/0014-5793(91)80942-v.

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.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / complications
  • Acidosis, Lactic / genetics*
  • Acidosis, Lactic / metabolism
  • Adult
  • Blotting, Southern
  • Brain Diseases / complications
  • Brain Diseases / genetics*
  • Brain Diseases / metabolism
  • Cerebrovascular Disorders / complications
  • Cerebrovascular Disorders / genetics*
  • Cerebrovascular Disorders / 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

Substances

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