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近来的工作已经证明,Ⅰ型胶原或其前体Ⅰ型溶胶原结构和合成发生突变是许多成骨不全(OI)变异型发生骨脆性增高的原因。这点可以解释一些Ehlers-Danlos综合征(EDS)变异型时皮肤、腱和韧带过度伸展的原因。近来发现,Ⅰ型胶原是最基本的骨蛋白质,约占骨(干重)的一半,去矿物质组织的(干重)85%以上,占皮肤、腱和韧带(干重)80%之多。因此,多年来认为许多遗传病与这些组织Ⅰ型胶原生物合成和结构发生
Recent work has demonstrated that mutations in the structure and synthesis of type I collagen or its precursor type I collagen are the cause of increased bone fragility in many types of osteogenesis imperfecta (OI). This explains why some of the Ehlers-Danlos syndrome (EDS) variants over-stretch the skin, tendons and ligaments. It has recently been found that type I collagen is the most basic form of bone protein, accounting for about half of bone (dry weight), more than 85% (dry weight) of demineralized tissue, accounting for as much as 80% of skin, tendon and ligaments . Therefore, many genetic diseases have been considered for many years with type I collagen biosynthesis and structure in these tissues