Publication year
2015Source
European Journal of Medical Genetics, 58, 12, (2015), pp. 695-703ISSN
Annotation
1 december 2015
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
European Journal of Medical Genetics
Volume
vol. 58
Issue
iss. 12
Page start
p. 695
Page end
p. 703
Subject
Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life SciencesAbstract
This review focusses on impact of a better knowledge of pathogenic mechanisms of Marfan and related disorders on their treatment strategies. It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular matrix component, fibrillin-1 is the cause of Marfan syndrome. However, the study of Marfan mouse models has revealed the strong involvement of the transforming growth factor-beta signalling pathway in the pathogenesis of Marfan. Similarly, this pathway was demonstrated to be key in the pathogenesis of Loeys-Dietz and Shprintzen-Goldberg syndrome. The elucidation of the underlying pathogenic mechanisms has led to new treatment strategies, targeting the overactive TGF-beta pathway. Various clinical trials are currently investigating the potential new treatment options. A meta-analysis will contribute to a better understanding of the various trial results.
This item appears in the following Collection(s)
- Academic publications [202606]
- Faculty of Medical Sciences [79948]
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