Monoaminergic neurotransmission plays an important role in the regulation of neuronal network excitability and seizure activity. Therapeutic inhibition of the mitochondrial
enzyme monoamine oxidase A (
MAO-A), which is involved in the degradation and inactivation of monoaminergic
neurotransmitters, has been shown to confer a potent
anticonvulsant effect. These and other findings suggest a possible role of the X-linked
MAO-A gene in epileptogenesis. Therefore, our study was designed to test for an association between a novel
MAO-A gene promoter polymorphism and common subtypes of
idiopathic generalized epilepsy (
IGE). The length of a 30-bp repetitive sequence approximately 1.2 kb upstream of the ATG
initiation codon was assessed in 126 patients with
juvenile myoclonic epilepsy (JME), 122 patients with idiopathic
absence epilepsy (IAE), and 248 healthy controls of German descent. Both sexes were analyzed separately. Although we observed a trend towards a lower number of heterozygotes carrying the 3 and 4 copy alleles in female IAE patients (chi2 = 3.813, df = 1, P = 0.053), allele frequencies did not deviate significantly between patients and controls. Thus, our results do not provide evidence for a contribution of the functional
MAO-A gene promoter polymorphism to the pathogenesis of common
IGE subtypes.