Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology.
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.
Department of Pathology, University of Washington, Seattle, WA 98195-7470, United States; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195-7470, United States.
Peter H
PH
Byers
Department of Pathology, University of Washington, Seattle, WA 98195-7470, United States; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195-7470, United States. Electronic address: mlmurray@u.washington.edu.
Mitzi L
ML
Murray
D000818:Animals; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000378:metabolism*; D005109:Extracellular Matrix / Q000378:metabolism*; D024022:Fibrillar Collagens / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D011509:Proteoglycans / Q000378:metabolism
D024022:Fibrillar Collagens; D011509:Proteoglycans
Collagen; Ehlers–Danlos syndrome; Proteoglycans