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Fortschr Neurol Psychiatr 2018; 86(09): 535-542
DOI: 10.1055/a-0624-9513
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

Molekulare Therapien von Muskeldystrophien

Molecular therapies in muscular dystrophies
Maggie C. Walter
Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München
,
Peter Reilich
Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München
› Author Affiliations
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Publication History

eingereicht 05 March 2018

akzeptiert 02 May 2018

Publication Date:
24 September 2018 (online)

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Zusammenfassung

Muskeldystrophien (MD) sind eine heterogene Gruppe genetisch determinierter, progredienter Erkrankungen der Muskulatur. Gemeinsames Merkmal aller MD ist eine fortschreitende Muskelschwäche und -atrophie, deren Schweregrad und Verteilungsmuster bei den verschiedenen Formen deutliche Unterschiede zeigt. Durch enorme Fortschritte in der Grundlagenforschung und ein verbessertes Verständnis der Pathophysiologie haben sich in letzter Zeit vielfältige molekulare Therapieansätze für Muskeldystrophien ergeben; zahlreiche molekulare Therapien befinden sich in der Entwicklung. Neue Entwicklungen im Bereich der personalisierten Gentherapie zielen strategisch auf bestimmte, genetisch determinierte Subtypen der Erkrankung, basierend auf dem jeweiligen Krankheitsmechanismus und dem resultierenden Phänotyp, und setzen damit ein Beispiel für andere hereditäre Erkrankungen. Der Erkenntnisgewinn in diesem Bereich nimmt stetig zu; dennoch ist es noch ein weiter Weg, bevor diese Therapieformen Phänotyp und Pathologie und der betroffenen Patienten tatsächlich werden korrigieren können.

Abstract

Muscular dystrophies (MD) are a clinically and genetically heterogeneous group of skeletal muscle-wasting diseases with progressive muscle weakness and atrophy, while disease severity depends on the subtype of the disease. Tremendous progress in basic research and an improved understanding of the pathophyisology of the disease have led to various molecular pipeline therapies for MD. Within the last years, promising new molecular therapies have been developed facilitating causative therapy in the near future. New developments of personalized gene therapy aim at genetically defined disease subgroups of MD, based on the underlying molecular mechanism and the resulting phenotype, and set an example for other hereditary diseases. We have learned tremendously within the last decade; however, there is still a long way to go until these therapeutic strategies will be able to finally cure MD, and not just modify the phenotype and pathology of DMD patients.

Schlüsselwörter

Muskeldystrophie - Duchenne - Gentherapie - molekulare Therapie

Key words

muscular dystrophy - Duchenne - gene therapy - molecular therapy
 

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