%0 Journal Article
%T Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
%A Han JX
%A Lu YQ
%A Ren XZ
%A Wang YZ
%A Zhang SE
%J Intractable & Rare Diseases Research - HOME
%D 2019
%R Intractable Rare Dis Res. 2019 ;8(2):98-107. (DOI: 10.5582/irdr.2019.01064)
%X SUMMARY: Type I collagen is an important structural protein of bone, skin, tendon, ligament and other connective tissues. It is initially synthesized as a precursor form, procollagen, consisting of two identical pro-¦Á1(I) and one pro¦Á2(I) chains, encoded by COL1A1 and COL1A2, respectively. The N- and C- terminal propeptides of procollagen are cleavage by N-proteinase and C-proteinase correspondingly, to form the central triple helix structure with Gly-X-Y repeat units. Mutations of COL1A1 and COL1A2 genes are associated with osteogenesis imperfecta, some types of Ehlers-Danlos syndrome, Caffey diseases, and osteogenesis imperfect/Ehlers-Danlos syndrome overlapping diseases. Clinical symptoms caused by different variations can be variable or similar, mild to lethal, and vice versa. We reviewed the relationship between clinical manifestations and type I collagen ¨C related rare genetic disorders and their possible molecular mechanisms for different mutations and disorders. Key Words: Type I collagen, biosynthesis, osteogenesis imperfecta, Ehlers-Danlos syndrome, Caffey disease, N- and C- propeptide, mutation Full Text: PDF(1238KB
%U http://www.irdrjournal.com/getabstract.php?id=1717