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

N. Bresolin, P. Martinelli, B. Barbiroli, P. Zaniol, C. Ausenda, P. Montagna, A. Gallanti, G. P. Comi, G. Scarlato, E. Lugaresi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)182-189
Number of pages8
JournalJournal of the Neurological Sciences
Volume104
Issue number2
DOIs
Publication statusPublished - 1991

Keywords

  • P-NMR spectroscopy
  • Brain bioenergetics
  • Migraine
  • Mitochondrial encephalomyopathy
  • mtDNA deletion
  • Muscle energy metabolism

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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