Matrix biology and pathology
Research in our group focuses on the study of the diverse roles played by extracellular matrix in vertebrate organogenesis, homeostasis, and disease. Collagens are the major components of extracellular matrix and the most abundant vertebrate proteins. They form a superfamily of 28 members that show a remarkable diversity in molecular and supramolecular organization, tissue distribution and function. Most of the collagen genes are unique to vertebrates but some are conserved in all animals and genes encoding collagen-like proteins have been characterized in several pathogenic bacteria.
In addition to be necessary for matrix structure and dynamics, they are closely involved in a variety of cell and morphogenetic events and can display highly specialized conserved functions. Structural inherited or acquired defects in collagens can cause cell and tissue alterations that lead to the development or progression of diseases. Mutations in human collagen genes are responsible for a dozen of disorders that affect various organs and tissues including skin and tendon (classic Ehlers-Danlos syndrome), muscle (Ulrich Congenital Muscular Dystrophy, Bethlem syndrome), skeleton (osteogenesis imperfecta, chondrodysplasia…) and retina (Knoblock syndrome). Deregulation of collagen synthesis has been associated with the development of cancer, Alzheimer disease and fibrosis. Understanding the function of collagens, from the molecules to the organisms, and the underlying mechanisms of action may have significant and broad impact on human health issues such as connective tissue disease treatment, wound repair, tissue regeneration and tissue ageing prevention.