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Alterations of elastic fibers in genetically modified mice and human genetic diseases.

The two main components of elastic fibers are elastin and microfibrils. Fibrillin and microfibrillar-associated glycoproteins are the essential constituents of microfibrils. In the last ten years, the analysis of genetically modified mice and human genetic diseases has led to the observation that, besides elastin, fibrillins and microfibrillar-associated proteins, numerous other molecules play an essential role in the supramolecular organisation of the elastic fibers in the extracellular space and in the interactions between elastic fibers and cells. These recent data are summarized in this review.