TGF-beta signalopathies as a paradigm for translational medicine.

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Title:	TGF-beta signalopathies as a paradigm for translational medicine.
Author(s):	Cannaerts, E.; Beek, G. van de; Verstraeten, A.; Laer, L. Van; Loeys, B.L.
Publication year:	2015
Source:	European Journal of Medical Genetics, vol. 58, iss. 12, (2015), pp. 695-703
ISSN:	1769-7212
DOI:	http://dx.doi.org/10.1016/j.ejmg.2015.10.010
Annotation:	1 december 2015
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/156890
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Subject:	Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Human Genetics
Journal title:	European Journal of Medical Genetics
Volume:	vol. 58
Issue:	iss. 12
Page start:	p. 695
Page end:	p. 703
Abstract:	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.