Mutations in Collagen Genes as a Cause of Connective-Tissue Diseases

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Abstract
FOR more than 10 years, my colleagues and I have been testing the relatively simple hypothesis that the degeneration of connective tissue characteristic of many diseases is the result of genetic defects in the collagens that provide most of the strength of the normal tissues. We and others first examined this hypothesis in relatively rare genetic diseases in which bone, cartilage, and other tissues can be so fragile as to be life-threatening early in life. More recently, we have tried to see whether the same hypothesis applies to more common diseases, such as osteoporosis, osteoarthritis, and aortic aneurysms.Structure, Function, . . .