Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient

J Neurol Sci. 1991 Aug;104(2):182-9. doi: 10.1016/0022-510x(91)90308-t.

Abstract

A 40-year-old female suffering from recurrent migrainous strokes is reported. She did not show any muscle weakness or wasting. Ragged red and cytochrome c oxidase negative fibers were present in the muscle biopsy. Muscle mitochondrial DNA analysis showed a 5 kb deletion, without a point mutation at nucleotide pair 3243 in the mitochondrial tRNALeu(UUR) gene. Phosphorus nuclear magnetic resonance spectroscopy of brain and gastrocnemius muscle showed a defective energy metabolism in both organs. An increased inorganic phosphate to phosphocreatine ratio due to a decreased phosphocreatine content was found in the occipital lobes, while an abnormal work-energy cost transfer function and a low rate of phosphocreatine post-exercise recovery were found in the muscle.

Publication types

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

MeSH terms

  • Adult
  • Blotting, Southern
  • Brain / metabolism*
  • Brain / pathology
  • Chromosome Deletion*
  • DNA Restriction Enzymes
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Energy Metabolism
  • Female
  • Histocytochemistry
  • Humans
  • Magnetic Resonance Spectroscopy / methods
  • Migraine Disorders / genetics*
  • Migraine Disorders / metabolism
  • Migraine Disorders / pathology
  • Mitochondria, Muscle / metabolism
  • Mitochondria, Muscle / physiology*
  • Muscles / metabolism*
  • Muscles / pathology
  • Oligodeoxyribonucleotides
  • Phosphorus
  • RNA, Ribosomal / genetics
  • RNA, Transfer / genetics
  • RNA, Transfer, Leu / genetics*

Substances

  • DNA, Mitochondrial
  • Oligodeoxyribonucleotides
  • RNA, Ribosomal
  • RNA, Transfer, Leu
  • Phosphorus
  • RNA, Transfer
  • Electron Transport Complex IV
  • DNA Restriction Enzymes