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Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

ABSTRACT: 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-?1(I) and one pro?2(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.

SUBMITTER: Lu Y 

PROVIDER: S-EPMC6557237 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

Lu Yanqin Y   Zhang Shie S   Wang Yanzhou Y   Ren Xiuzhi X   Han Jinxiang J  

Intractable & rare diseases research 20190501 2

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 <i>COL1A1</i> and <i>COL1A2</i>, 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 <i>COL1A  ...[more]

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