Complex Gene Diseases of the Connective Tissue

概要

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Type I collagen is the major structural protein of the extracellular matrix and is found in large quantities in various part of the body, especially in the connective tissues such as the skin, bones, teeth, and tendons. A decrease in the rate of type I collagen synthesis or production of defective molecules induces deformity of embryos or fetuses in extreme cases, as occurs in the patients with Ehlers-Danlos syndrome (EDS) or osteogenesis imperfecta (OI). On the other hand, aberrant accumulation of type I collagen in tissue and organs results in organ fibrosis such as hepatic fibrosis in the liver, pulmonary fibrosis in the lung, and systemic sclerosis (SSc) in the skin. These facts indicate that expression of type I collagen genes are precisely regulated both during the course of development and for maintenance of homeostasis of the body in normal subjects. Recent finding of the polymorphisms of the human genome and their possible functions in the regulation of the respective genes suggests that polymorphism of type I collagen genes might be responsible for the predisposition toward various connective tissue disorders in addition to hereditary diseases.
2001-03-25