4.1 Review

TGF-β signalopathies as a paradigm for translational medicine

Journal

EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 58, Issue 12, Pages 695-703

Publisher

ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.10.010

Keywords

Transforming growth factor beta; Marfan syndrome; Loeys-Dietz syndrome; Shprintzen-Goldberg syndrome; Angiotensin receptor blocker; Beta blocker

Funding

  1. University of Antwerp (Lanceringsproject) [5198]
  2. Fund for Scientific Research, Flanders (FWO, Belgium) [G.0221.12, 6241]
  3. Dutch Heart Foundation [2013T093 BAV]
  4. Fondation Leducq [5446]
  5. Fund for Scientific Research, Flanders (FWO, Belgium)
  6. European Research Council (ERC)

Ask authors/readers for more resources

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. (C) 2015 Elsevier Masson SAS. All rights reserved.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.1
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available