Molecular pathology in inherited disorders of collagen metabolism

During the last ten years remarkable progress has been made in understanding basic aspects of collagen metabolism, and recently this new information has been applied to an analysis of disease processes in human beings and animals. As a result, abnormalities in the structure of the constituent chains of types I and III collagens and in post-translational modifications of these molecules have been identified (fig. 2). Furthermore, the pathophysiologic effects on tissues are becoming better understood, and diagnostic tests, including prenatal diagnosis, for specific disorders are becoming available. These diseases have provided many opportunities for research into the mechanisms by which collagen biosynthesis is regulated, the requirements for secretion, the role of specific collagens in tissues, and the function of certain crosslinks. As genomic probes for the different collagen genes are developed, the contributions of studies of these diseases to an understanding of gene structure and function can only increase, as will the opportunities for more detailed approaches to molecular analysis.