Migraine and the MELAS (mitochondrial myopathy, encephalopathy, lactic
acidosis, and stroke-like episodes) syndrome have some clinical featu
res in common. First, cerebral infarctions, most often in the posterio
r cerebral regions, which are a main symptom of MELAS, may complicate
migraine. Second, migrainous headache with vomiting is also a characte
ristic feature of the MELAS syndrome. Less frequently, hemicranial hea
dache is present in another mitochondrial disease, myoclonic epilepsy
with ragged-red fibers (MERRF). Moreover, there is a mild bias toward
maternal transmission in migraine. Apart from clinical resemblance, th
ere is some experimental evidence for mitochondrial dysfunction in mig
raine. There may be depression of respiratory chain enzyme activity in
muscle and platelets, and magnetic resonance spectroscopy has reveale
d a defective energy metabolism in brain and muscle of migraine patien
ts. There has not been a systematic study of mitochondrial DNA in migr
aine, however. We therefore analyzed the mitochondrial DNA in lymphocy
tes of 23 migraine patients with aura. Southern blot and polymerase ch
ain reaction analysis of mitochondrial DNA failed to detect any large-
scale deletions or point mutations at base pair 3243 (MELAS) and base
pair 8344 (MERRF). Our data show that deletions of mitochondrial DNA a
nd the most frequent point mutations of MELAS and MERRF syndromes are
not common in migraine with aura. In particular, these data do not sup
port the hypothesis that some cases of migraine may be monosymptomatic
forms of a MELAS syndrome. We cannot exclude, however, that migraine
may be associated with different point mutations of mitochondrial DNA
or with mutations of autosomally coded respiratory chain subunit genes
.