Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

Mitochondrion. 2011 Jul;11(4):615-9. doi: 10.1016/j.mito.2011.04.003. Epub 2011 Apr 20.


An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This mutation has previously been identified in a patient with the mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The mother of the proband also had high levels of the m.1630A>G allele present in blood and other tissues, without symptoms. To confirm the pathogenicity of this mutation, we created cybrid cell lines with various mutation loads. The m.1630A>G mutation impairs oxygen consumption, affects the stability of the MTTV and reduces the levels of subunits of the electron transport chain.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Alleles
  • Cells, Cultured
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Electron Transport
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / metabolism
  • MELAS Syndrome / pathology
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Nucleic Acid Conformation
  • Oxygen / metabolism
  • Point Mutation*
  • RNA, Transfer, Val / genetics*
  • RNA, Transfer, Val / metabolism


  • DNA, Mitochondrial
  • RNA, Transfer, Val
  • Oxygen