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The rate of collagen synthesis in the cell layer fraction of the skin fibroblasts derived from a patient with Marfan syndrome was greater than that in the normal fibroblasts. Neither the relative content of type III collagen nor the level of prolyl and lysyl hydroxylations in type I collagen changed. Intracellular degradation rate of collagen in Marfan syndrome fibroblasts was decreased to one fifth of that in the normal fibroblasts. These results suggest that abnormal collagen metabolism may be related to the pathogenesis of clinical manifestations of Marfan syndrome.

keio journal of medicine

Collagen Metabolism in the Fibroblasts Derived from the Skin of a 16-year-old Patient with Marfan Syndrome: A Decreased Rate of Intracellular Degradation of Collagen.