Neue Behandlungsansätze bei erblich bedingten Myopathien

Zusammenfassung

Erbliche bedingte Myopathien bilden eine heterogene Gruppe von Muskelerkrankungen, bei denen genetische Mutationen unterschiedliche Auswirkungen auf die Physiologie der Muskelzelle haben. Diese können zu einem teilweisen oder kompletten Verlust der Funktion wichtiger Proteine führen, aber auch zur Produktion von toxischen Produkten auf RNA- und Proteinebene. Verschiedenste therapeutische Ansätze wurden in den letzten Jahren experimentell an Tiermodellen und in klinischen Studien getestet. Strategien wie Zellersatztherapien mit Stammzellen, Gentherapie mit viralen Vektoren und Therapien mit Antisense-Oligonukleotiden haben vielversprechende Resultate geliefert, die nun teilweise in klinischen Studien validiert werden und somit Hoffnung auf eine baldige klinische Anwendung wecken.

Abstract

Inherited myopathies form a heterogenous group of muscle diseases, in which genetic mutations may lead to a loss of function of the proteins implicated in important cellular tasks. On the other hand, genetic mutations may also have an effect on chromatin structure or produce toxic RNA or proteins, which are detrimental for the muscle cell. An understanding of the molecular biology of muscle diseases has led to the advancement of several therapeutic strategies which, after showing promise in animal models, are now being tested in clinical trials. Strategies such as cell replacement therapies with stem cells, gene therapies with viral vectors and therapies with antisense oligonucleotides have furnished promising results and have now in part been validated in clinical studies, thus showing promise for clinical use in the near future.

Schlüsselwörter

Muskeldystrophie - Dystrophinopathie - Gliedergürteldystrophie - Dysferlinopathie - Exon-Skipping

Keywords

muscular dystrophy - dystrophinopathy - limb-girdle muscular dystrophy - dysferlinopathies - exon-skipping

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