Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46.

Abstract

The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNA(His) gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers.

Publication types

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

MeSH terms

  • Adult
  • Biopsy
  • Brain Edema / etiology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Disease Progression
  • Electron Transport Complex IV / metabolism
  • Headache / etiology
  • Humans
  • Male
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics*
  • Molecular Sequence Data
  • Muscle Fibers, Fast-Twitch / chemistry
  • Muscle Fibers, Fast-Twitch / metabolism
  • Muscle Fibers, Fast-Twitch / pathology
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Mutation*
  • Nucleic Acid Conformation
  • Optic Atrophy / etiology
  • Phenotype
  • RNA, Transfer, His / genetics*
  • Reye Syndrome / complications
  • Seizures / etiology
  • Sequence Homology, Nucleic Acid

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, His
  • Electron Transport Complex IV