Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA

Biol Chem Hoppe Seyler. 1993 Dec;374(12):1099-104. doi: 10.1515/bchm3.1993.374.7-12.1099.


In extraocular muscle tissue of elderly humans small amounts of point mutations in tRNA genes of mitochondrial DNA (mtDNA) were identified by point mutation-specific PCR. These mutations were not found in navel-string samples from newborns. While the mutations in tRNA(Leu(UUR)) (np 3243) and tRNA(Gly) (np 10006), previously identified in patients with MELAS and CIPO, respectively, were found in most elderly people, the mutations in tRNA(Ser(GCU)O (np 12246) and tRNA(Asn) (np 5692), identified in patients with CIPO and CPEO, respectively, were found only in two of 15 tissue samples from different individuals. The data suggest that some nucleotides of mtDNA represent "hot spots" for somatic mutations, which contribute to human aging.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / genetics*
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Transfer / genetics*
  • RNA, Transfer / physiology


  • DNA, Mitochondrial
  • RNA, Transfer

Associated data

  • GENBANK/L08443
  • GENBANK/S67479
  • GENBANK/S67480
  • GENBANK/S67481
  • GENBANK/S67526
  • GENBANK/S67527
  • GENBANK/S69629
  • GENBANK/S69630
  • GENBANK/S69632
  • GENBANK/S69633