The Biosynthesis of Collagen and Its Disorders

(Second of Two Parts)How Do Defects in Biosynthesis Explain Genetic Diseases of Collagen?There are many rare genetic diseases that involve connective tissues, such as skin and bone.As the information reviewed above about collagen structure and biosynthesis accumulated, biochemical data were quickly obtained to explain a number of genetic diseases in man on the basis of molecular defects in collagen biosynthesis. The biochemical data helped to define specific subtypes of some of these diseases. At the same time, study of several of these genetic diseases provided new information about the biosynthetic process itself. For example, shortly after lysyl . . .