Fedarko N S, Vetter U, Robey P G
Bone Research Branch, National Institute of Dental Research, NIH, Bethesda, MD, USA.
Connect Tissue Res. 1995;31(4):269-73. doi: 10.3109/03008209509010821.
Osteogenesis Imperfecta (OI) has been defined as a heritable connective tissue disorder with variable severity of clinical expression. OI is a type I collagen based disease. Consequently, much research has focused on identifying specific mutations in the pro-alpha (I) genes. Our interest in OI lies in the metabolism of the non-collagenous proteins (NCPs) of the bone matrix. Although type I collagen is the most abundant protein in bone extracellular matrix, it is the NCPs which bind to, modify and have the potential to regulate that collagen matrix. Our approach has been to determine the levels of the NCPs for both OI and age-matched controls. Most recently, we have utilized an in vitro human osteoblast system to study normal and OI NCP metabolism (Fedarko et al. J. Bone Min. Res. 7, 921-930, 1992). It is our hypothesis that the altered stoichiometry of collagen and NCPs is, in part, responsible for the phenotypic variation of the disease.
成骨不全症（OI）被定义为一种临床表型严重程度各异的遗传性结缔组织疾病。OI是一种基于I型胶原蛋白的疾病。因此，许多研究都集中在鉴定原α（I）基因中的特定突变。我们对OI的兴趣在于骨基质中非胶原蛋白（NCPs）的代谢。虽然I型胶原蛋白是骨细胞外基质中最丰富的蛋白质，但正是NCPs与胶原蛋白基质结合、修饰并有可能对其进行调节。我们的方法是测定OI患者和年龄匹配的对照组中NCPs的水平。最近，我们利用体外人成骨细胞系统来研究正常和OI患者的NCP代谢（Fedarko等人，《骨矿物质研究杂志》7，921 - 930，1992）。我们的假设是，胶原蛋白和NCPs化学计量的改变在一定程度上导致了该疾病的表型变异。
