Gene und Schmerz

Zusammenfassung

Zur Genetik von Schmerzerkrankungen hat es in den letzten Jahren beträchtliche Fortschritte gegeben. Diese betreffen zum einen monogenetische Erkrankungen, die mit einer Schmerzerkrankung oder mit stark verminderter bis fehlender Schmerzempfindung einhergehen. Mutationen sind in den Genen für spannungsabhängige Natriumkanäle und in der Familie der Transient Receptor Potienzial Vanilloid (TRP) Rezeptoren entdeckt worden. Auf der anderen Seite gibt es Mutationen oder Gen-Polymorphismen, die im Zusammenspiel mit anderen Faktoren die Schmerzempfindlichkeit beeinflussen, hierzu gehören Polymorphismen in Enzymen, die die Funktion endogener Opioide beeinflussen. Genomweite Assoziationsstudien (GWAS) haben dazu beigetragen, neue Gene in Assoziation mit Schmerzphänotypen zu finden, deren Funktion zum Teil noch nicht bekannt ist.

Abstract

Considerable progress has been made in recent years in our understanding of the genetics of pain disorders. On the one hand, there are monogenic diseases that are associated with a pain disorder, or with greatly reduced or lack of pain sensation. Relevant mutations have been discovered in the genes for voltage-dependent sodium channels and in genes for transient receptor potential vanilloid (TRP) receptors. On the other hand, there are mutations or gene polymorphisms that, in interaction with other factors, affect pain sensitivity. These include polymorphisms that influence the function of endogenous opioids. Genome-wide association studies (GWAS) have helped to detect new genes in association with pain phenotypes, whose function is not yet fully known.

Schlüsselwörter

Gene - Schmerz - Natriumkanäle

Key words

genetics - pain - sodium channels

• Literatur

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