Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

Biochem Biophys Res Commun. 1991 May 15;176(3):1112-5. doi: 10.1016/0006-291x(91)90399-r.


The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNA(thr) genes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the anticodon stem adjacent to the anticodon loop of tRNA(thr). Patient 2 had an A to G mutation at nt 15923 which is the last base of the anticodon loop. The results suggest that mtDNA mutations affecting the anticodon loop structure of tRNA(thr) cause mitochondrial disease that is fatal in infancy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anticodon / genetics
  • Base Sequence
  • Cytochrome-c Oxidase Deficiency*
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / isolation & purification
  • Electron Transport Complex III / genetics
  • Electron Transport Complex IV / genetics
  • Female
  • Genome, Human
  • Humans
  • Infant, Newborn
  • Mitochondria, Liver / metabolism*
  • Mitochondria, Muscle / metabolism*
  • Molecular Sequence Data
  • Mutation*
  • RNA, Transfer, Thr / genetics*


  • Anticodon
  • DNA, Mitochondrial
  • RNA, Transfer, Thr
  • Electron Transport Complex IV
  • Electron Transport Complex III