A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Biochim Biophys Acta. 1991 Oct 21;1097(3):238-40. doi: 10.1016/0925-4439(91)90042-8.

Abstract

In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide position 3271 in the mitochondrial tRNA(Leu(UUR] gene was recognized and was very near to the most common mutation site at 3243. With a simple detection method using polymerase chain reaction with a mismatch primer, none of 46 patients with other mitochondrial diseases and 50 controls had this mutation.

MeSH terms

  • Acidosis, Lactic / genetics*
  • Base Sequence
  • Brain Diseases / genetics*
  • Cerebrovascular Disorders / genetics
  • DNA, Mitochondrial / genetics*
  • Humans
  • Molecular Sequence Data
  • Muscular Diseases / genetics*
  • Mutation / genetics
  • Nucleic Acid Conformation
  • Oligodeoxyribonucleotides / genetics
  • Polymerase Chain Reaction
  • RNA, Transfer, Leu / genetics*

Substances

  • DNA, Mitochondrial
  • Oligodeoxyribonucleotides
  • RNA, Transfer, Leu

Associated data

  • GENBANK/S55793
  • GENBANK/S55796
  • GENBANK/S55800
  • GENBANK/S55805
  • GENBANK/S55807
  • GENBANK/S55811
  • GENBANK/S55812
  • GENBANK/S55814
  • GENBANK/S55817
  • GENBANK/S63198