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Genetik primärer Kopfschmerzen

Genetics of primary headache syndromes

  • Leitthema
  • Published:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Aims and scope

Zusammenfassung

Die Migräne hat eine erhebliche genetische Komponente. Klassischer Vertreter monogener Migräneformen ist die familiäre hemiplegische Migräne, für die bisher 3 ursächliche, von Mutationen betroffene Gene identifiziert wurden; Arbeiten an transgenen Tiermodellen haben entscheidend zu einem besseren Verständnis der molekularen Pathophysiologie dieser monogenen Modellerkrankung, aber auch der Migräne insgesamt beigetragen. Daneben existieren auch andere (seltenere) monogene Migräne-Formen, z. B. im Rahmen hereditärer meist vaskulärer Syndrome, wie z. B. CADASIL. Auf der anderen Seite stehen die häufigen Migräneformen, die genetisch komplex sind. In diesem Bereich wurden in den letzten wenigen Jahren durch große genomweite Assoziationsstudien die ersten robusten genetischen Risikofaktoren identifiziert, wobei sich das Feld dynamisch weiterentwickelt. Die vorliegende Überblicksarbeit stellt den aktuellen Wissensstand zur Migränegenetik dar; Schwerpunkte bilden die Themen hemiplegische Migräne und die jüngsten Ergebnisse zu den häufigen Migräneformen. Als Ausblick werden auch präliminäre Befunde zur Genetik anderer primärer Kopfschmerzerkrankungen wie Clusterkopfschmerz oder Spannungskopfschmerz besprochen.

Abstract

Migraine has an important genetic component. The prototypic monogenic form of migraine is hemiplegic migraine, a rare subtype of migraine with aura, for which three causative genes have been identified. Studies of transgenic animal models have substantially improved our understanding of the molecular pathophysiology of this monogenic model disease as well as of migraine in general. Beyond this, there are other (rarer) monogenic forms of migraine, e.g., in the context of hereditary mostly vascular syndromes such as CADASIL. By contrast, the common types of migraine with and without aura are genetically complex. With the identification of the first robust genetic risk variants in large genome-wide association studies, our knowledge in this still dynamically expanding field has substantially increased. This review summarizes the current status of migraine genetics, with a special focus on hemiplegic migraine as well as the most recent findings in complex migraine genetics. In addition, the first preliminary findings on the genetics of other types of primary headache disorders (cluster headache, tension-type headache) are briefly reviewed.

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  1. Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie-Institut für Klinische Hirnforschung, Universitätsklinikum Tübingen, Hoppe-Seyle-Str. 3, 72076, Tübingen, Deutschland

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Freilinger, T. Genetik primärer Kopfschmerzen. Bundesgesundheitsbl. 57, 919–927 (2014). https://doi.org/10.1007/s00103-014-1998-0

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