著者

Yanqin Lu Shie Zhang Yanzhou Wang Xiuzhi Ren Jinxiang Han

出版者

International Research and Cooperation Association for Bio & Socio-Sciences Advancement

雑誌

Intractable & Rare Diseases Research (ISSN:21863644)

巻号頁・発行日

vol.8, no.2, pp.98-107, 2019-05-31 (Released:2019-06-14)

参考文献数

110

被引用文献数

27

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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-α1(I) and one proα2(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 – related rare genetic disorders and their possible molecular mechanisms for different mutations and disorders.