Genetik von Schlafstörungen

Zusammenfassung

Viele Schlafstörungen mit genetischen Grundlagen sind nicht einzelnen Genen zuzuordnen. Für die meisten Schlafstörungen wird eine komplexe Genetik angenommen. Assoziationen zu bestimmten HLA Loci wurden für die Narkolepsie, das Schlafwandeln, die REM-Verhaltensstörung und das Kleine-Levin-Syndrom gezeigt. Mittels genomweiter Assoziations-Analyse wurden für das Restless Legs Syndrom eine Assoziation zu verschiedenen Genen gezeigt. Einzelne krankheitsverursachende Gene konnten erst für sehr wenige Schlafstörungen beschrieben werden. Hierzu zählen das Syndrom der vorverlagerten Schlafphasen und das Congenitale-Centrale-Hypoventilations Syndrom. In Zukunft sind aufgrund der technischen Möglichkeiten mittels genomweiter Assoziations-Analysen zunehmende Erkenntnisse zu Assoziationen mit neuen Genloci zu erwarten. Diese werden es ermöglichen, die biologischen Grundlagen von Schlafstörungen besser zu verstehen und neue Therapieoptionen zu entwickeln. Für die genetische Erforschung von Schlafstörungen ist die exakte Phänotypisierung, die auch eine kardiorespiratorischen Polysomnografie beinhaltet, unerlässlich.

Abstract

Many sleep disorders have a strong genetic background and are rarely monogenetic. Most sleep disorders are assumed to be complex genetic disorders. Associations between the HLA system and narcolepsy, sleep walking, REM behavourial disorder and Kleine-Levin syndrome have been shown. Restless legs syndrome was found to be associated with different genes using a genome-wide association approach. In future, new associations will be found as a consequence of new technologies that improve our knowledge about the biological basis of sleep disorders. This knowledge will lead to new therapeutic options. For further investigations, the exact description of the specific phenotypes will be essential using cardiorespiratory polysomnography as one of the most important prerequisites.

Schlüsselwörter

Genetik - Schlafstörungen - Mutation

Key words

genetics - sleep disorders - mutation

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