title: High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
abstract: 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 tRNA(Leu) 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.
authors.affiliation: Department of Neurological Sciences, University of Bologna, Bologna, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Cevoli
authors.forename: Francesco
authors.initials: F
authors.lastname: Pallotti
authors.forename: Chiara
authors.initials: C
authors.lastname: La Morgia
authors.forename: Maria L
authors.initials: ML
authors.lastname: Valentino
authors.forename: Giulia
authors.initials: G
authors.lastname: Pierangeli
authors.forename: Pietro
authors.initials: P
authors.lastname: Cortelli
authors.forename: Agostino
authors.initials: A
authors.lastname: Baruzzi
authors.forename: Pasquale
authors.initials: P
authors.lastname: Montagna
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
mesh_terms: D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu