Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

Peter H. Byers, Mitzi L. Murray

 

Abstract:

The Ehlers–Danlos syndromes (EDS) are genetically and clinically diverse disorders in which affected individuals share a number of physical characteristics, including joint hypermobility, skin extensibility, and tissue friability. Clinical investigations opened the door to identifying the biochemical and molecular etiologies of this diverse but overlapping group of disorders. In this article, we provide an overview of how these disorders inform our understanding of matrix biology, including the role of collagens (types I, III and V), proteoglycans and other proteins.

Final considerations:

The genomic era promises to shed additional light on unsolved forms of Ehlers–Danlos syndrome. Identifying and understanding the clinical diversity, genetic etiology and pathophysiologic mechanisms of various forms of EDS will undoubtedly continue to expand the last 50 years' work towards understanding the biology of the extracellular matrix and the role of the constituent macromolecules in human health and disease.

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Published by Elsevier B.V. July 2013