[Genetics of migraine].
Twin and family studies provide evidence of a genetic component in migraine, in particular migraine with aura (MA). Familial hemiplegic migraine (FHM) is a rare monogenic subtype of MA for which three causative genes have been identified: CACNA1A (FHM1), ATP1A2 (FHM2), and SCN1A (FHM3). Mutations in these genes are also found in some patients with sporadic hemiplegic migraine. Linkage studies have identified several gene loci for the more common forms of migraine; however, identification of the respective causative genes is still pending. This review summarizes recent developments in the genetics of migraine and their implications for molecular genetic testing. We further discuss the roles of CACNA1A, ATP1A2, and SCN1A in the pathophysiology of cortical spreading depression, which is the likely correlate of migraine aura.
Freilinger
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Neurologische Klinik und Poliklinik, Klinikum Grosshadern der Ludwig-Maximilians-Universität München, Marchioninistrasse 23, 81377, München, tobias.freilinger@med.uni-muenchen.de
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D015220:Calcium Channels / Q000235:genetics; D002540:Cerebral Cortex / Q000503:physiopathology; D002874:Chromosome Mapping; D013181:Cortical Spreading Depression / Q000235:genetics / Q000502:physiology; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D008881:Migraine Disorders / Q000235:genetics* / Q000503:physiopathology; D020325:Migraine with Aura / Q000235:genetics / Q000503:physiopathology; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics; D018433:Twin Studies as Topic; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D015222:Sodium Channels; D000254:Sodium-Potassium-Exchanging ATPase; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C568242:SCN1A protein, human; C498531:ATP1A2 protein, human