Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

Nucleic Acids Res. 1991 Apr 11;19(7):1393-7. doi: 10.1093/nar/19.7.1393.


We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable mtDNA deletions. Four point mutations were identified, located within highly conserved regions of mitochondrial tRNA genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One of these mutations (tRNA(Leu)(UAG)) was found in four patients with different forms of mitochondrial myopathy. An accumulation of three different tRNA point mutations (tRNA(Leu)(UAG)), tRNA(Ser)(GCU) and tRNA(Gly) was observed in a single patient, suggesting that mitochondrial tRNA genes represent hotspots for point mutations causing neuromuscular diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / chemistry*
  • Molecular Sequence Data
  • Mutation
  • Neuromuscular Diseases / etiology
  • Neuromuscular Diseases / genetics*
  • Nucleic Acid Conformation
  • Ophthalmoplegia / genetics*
  • Polymerase Chain Reaction
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer / genetics*
  • Sequence Homology, Nucleic Acid


  • RNA, Mitochondrial
  • RNA
  • RNA, Transfer