Feb 1, 1976

Defects in the biochemistry of collagen in diseases of connective tissue

The Journal of Investigative Dermatology
J Uitto, J R Lichtenstein


The collagens are the major structural glycoproteins of connective tissues. A unique primary structure and a multiplicity of post-translational modification reactions are required for normal fibrillogenesis. The post-translational modifications include hydroxylation of prolyl and lysyl residues, glycosylation, folding of the molecule into triple-helical conformation, proteolytic conversion of precursor procollagen to collagen, and oxidative deamination of certain lysyl and hydroxylysyl residues. Any defect in the normal mechanisms responsible for the synthesis and secretion of collagen molecules or the deposition of these molecules into extracellular fibers could result in abnormal fibrillogenesis; such defects could result in a connective tissue disease. Recently, defects in the regulation of the types of collagen synthesized and in the enzymes involved in the post-translational modifications have been found in heritable diseases of connective tissue. Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome ty...Continue Reading

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Mentioned in this Paper

Marfan Syndrome
Ehlers-Danlos Syndrome Type 5
Collagen Diseases
Protein-Lysine 6-Oxidase
Sex Chromosomes
Osteogenesis Imperfecta
Protein Biosynthesis

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