High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families

Sabina Cevoli, Francesco Pallotti, Chiara La Morgia, Maria L. Valentino, Giulia Pierangeli, Pietro Cortelli, Agostino Baruzzi, Pasquale Montagna, Valerio Carelli

Research output: Contribution to journalArticlepeer-review


Migraine is associated with stroke-like episodes in mitochondrial encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS). Moreover, abnormalities of oxidative phosphorylation are also reported in migraine. We studied two maternal lineages with MELAS and chronic progressive external ophthalmoplegia (CPEO) affected probands carrying the 3243 A>G tRNA Leu (MELAS) mutation, remarkable for a high frequency of subjects suffering only migraine. Thus, migraine could be a monosymptomatic expression of the MELAS mutation. We assessed the 3243 A>G tRNALeu mutational load in skeletal muscle and other somatic tissues from the migraine-only subjects, as well as lactic acid levels after exercise. All migraine-only subjects did not carry the MELAS mutation. Muscle biopsy showed mild mitochondrial abnormalities in the non-mutant, migraine-only subjects and, occasionally, abnormal lactic acid. Clear features of mitochondrial myopathy and pathological lactic acid characterised the subjects carrying the MELAS mutation. Our study demonstrates that migraine-only subjects lacked the MELAS mutation, but still had a possible mtDNA-associated genetic predisposition, being maternally related and having some evidence of impaired mitochondrial oxidative phosphorylation.

Original languageEnglish
Pages (from-to)919-927
Number of pages9
Issue number8
Publication statusPublished - Aug 2010


  • CPEO
  • Genetic
  • Migraine
  • Oxidative phosphorylation
  • Stroke-like

ASJC Scopus subject areas

  • Clinical Neurology
  • Medicine(all)


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