摘要
成骨不全作为罕见性遗传性结缔组织疾病,具有临床异质性与遗传异质性,迄今已经分为15个亚型.有常染色体显性遗传与常染色体隐性遗传两种遗传方式.常染色体显性遗传以Ⅰ型胶原蛋白结构基因COL1A1、COL1A2突变为主.非Ⅰ型胶原蛋白突变的常染色体隐性遗传的成骨不全患者数量少,但致病基因种类多,涉及到胶原合成后异常修饰,胶原蛋白分子伴侣及羧基端前肽剪切酶缺陷、成骨细胞与破骨细胞分化及转录因子异常、钙离子通道与Wnt信号通路分子等诸多方面.致病基因及其机制的研究,对于成骨不全的基因确诊及个体化药物治疗意义重大.
Osteogenesis imperfecta （OI） is a group of rare genetic connective tissue diseases with clinical heterogeneity and genetic heterogeneity. Till now, fifteen subtypes of OI has been identified. Autosomal dominant OI is the primary inheritance pattern, and it is caused by mutations in the COL1A 1 or COLIA2 genes that encode the proal and proa2. Recessively inherited forms of OI are rare and are caused by mutations in many different genes, which related with post-transcriptional modification, defects of collagen＇s chaperons and C-propeptide cleavage enzyme, osteoblast/osteocyte differentiation and transcript factor, Ca^2＋ channel as well as Wnt signaling molecules. The pathogenic genes and mechanisms to dominant and recessive OI are useful for gene detection and individual therapy of OI patients.
出处
《生物化学与生物物理进展》
SCIE
CAS
CSCD
北大核心
2015年第6期511-518,共8页
Progress In Biochemistry and Biophysics
基金
山东省医药卫生科技发展计划项目(2013WS0374)
山东省科技厅国际合作项目(2014GH02)~~
关键词
成骨不全
I型胶原蛋白
常染色体显性遗传
常染色体隐性遗传
分子机制
osteogenesis imperfecta, type I collagen, autosomal dominant inheritance, autosomal recessiveinheritance, molecular mechanisms
