腓骨肌萎缩症的遗传特征及致病机制的研究进展

腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)是一类常见的遗传性周围神经病,发病率约为1/2500.该病主要呈AD遗传,也可呈AR遗传及XD或XR遗传.据统计,与CMT相关的基因有33个1],已确定的致病基因至少有27个,其中外周髓鞘蛋白22(peripheral myelin protein 22,PMP22)、髓鞘蛋白零(myelin protein zero,MPZ)和间隙连接蛋白32(connexin-32,Cx32)异常最受关注.近年来在突变基因特征及其致病机制方面取得的研究进展为该病的基因诊断和基因治疗奠定了基础.本文主要就上述内容作一综述.

Advances in the study of genetic characteristics and molecular mechanisms in Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a kind of common hereditary peripheral neuropathy which incidence is estimated 1/2 500. The genetic pattern of this disease mainly shows autosomal dominant (AD) , also shows autosomal recessive inheritance ( AR) and X-linked dominant ( XD) , or recessive inheritance (XR). It was reported that there were 33 CMT-related genes1]. Twenty-seven disease-causing genes were defined, including peripheral myelin protein 22 ( PMP22) , myelin protein zero ( MPZ) , and connexin 32 ( Cx32) , which had more relevant reports. In recent years, lots of new disease-causing genes have been defined, which laid the foundation for exploring neural degeneration and the pathogenesis of muscle atrophy and for the prevention or treatment of the disease through gene diagnosis and gene therapy. In this paper, the features of mutation genes and the mechanisms of disease-causing genes in CMT are reviewed.