遗传性多发性外生骨疣发病的分子机制

遗传性多发性外生骨疣发病的具体分子机制仍不清楚.国内外大量研究分别从EXT基因家族、产物蛋白、信号通路等不同角度进行探讨,认为该病可能由于EXT基因突变引起信号传导通路出现异常,影响软骨细胞增殖分化,导致骨疣形成.本文概述近年来对遗传性多发性外生骨疣发病机制的新进展,提出以后可能的研究方向和需要解决的关键问题.

Advances on molecular mechanism of hereditary multiple exostoses

The molecular mechanism of hereditary multiple exostoses has remained unclear. Previous studies focused on EXT gene family, proteins or signaling transmission suggested that the mutated EXT genes caused the abnormality of signaling, disturbing the proliferation and differentiation of chondrocytes, and therefore resulting in the initiation and progression of exostoses. This review summarizes the new advances in molecular mechanism of hereditary multiple exostoses in recent years, putting forward possible directions and the key points for further investigations.