Osteogenesis Imperfecta And Its Molecular Mechanisms
Keywords
Osteogenesis Imperfecta, Type I Collagen, Autosomal Dominant Inheritance, Autosomal Recessive Inheritance, Molecular Mechanism
Abstract
Osteogenesis imperfecta is a rare hereditary connective tissue disease with clinical and genetic heterogeneity. It has been divided into 15 subtypes so far. There are two modes of inheritance: autosomal dominant inheritance and autosomal recessive inheritance. Autosomal dominant inheritance is dominated by mutations in type I collagen structural genes col1a1 and col1a2. The number of patients with autosomal recessive osteogenesis imperfecta caused by non-type I collagen mutations is small, but there are many types of disease-causing genes, involving abnormal modifications after collagen synthesis, defects in collagen molecular chaperones and carboxyl-terminal propeptide cleavage enzymes, and Osteocyte and osteoclast differentiation and transcription factor abnormalities, calcium ion channels and wnt signaling pathway molecules and many other aspects. The study of disease-causing genes and their mechanisms is of great significance for genetic diagnosis and personalized drug treatment of osteogenesis imperfecta.
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Original research was done by Lu Yanqin, Ren Xiuzhi, Wang Yanzhou, Han Jinxiang
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