The Marfan Syndrome: A Deficiency in Chemically Stable Collagen Cross-Links

Abstract

THE reduced tensile strength of tissues supporting the ocular lenses, cardiac valves, and aorta in heritable connective-tissue diseases is probably due to a defective organization of collagen. Since multiple biochemical reactions are involved in collagen organization,¹ a variety of metabolic aberrations may be causal in these diseases. The metabolic aberrations leading to defective collagen organization in some autosomal recessive forms of these diseases involve deficient activities of enzymes that modify procollagen after its synthesis^{2 3 4}; however, the aberrations responsible for defective collagen organization in autosomal dominant forms of these diseases remain unidentified.As the biology of collagen cross-links in collagen . . .