X-连锁遗传性腓骨肌萎缩症的研究进展

X-linked Inheritance Charcot-Marie-Tooth Disease

腓骨肌萎缩症(CMT)是一组具有高度遗传异质性的周围神经系统单基因遗传病,多数呈常染色体显性遗传,X-连锁遗传性腓骨肌萎缩症(CMTX)是第二常见类型。多数为儿童或青年起病,表现为缓慢进展的上、下肢远端肌肉尤其是双下肢远端肌肉进行性无力和萎缩,可呈典型的"鹤腿"样畸形。临床上CMTX患者男性受累程度比女性重,肌电图改变为神经源性损害,表现为插入电位延长,出现纤颤电位、正相电位,运动单位电位的时限增宽、波幅增高,电压显著增高,出现巨大电位(4 000 UV以上),以及多相电位增多等。目前认为CMTX是由缝隙连接蛋白32(Cx32)基因突变引起的,因此诱导Cx32基因正常水平的表达将有可能成为CMTX基因治疗的关键。

Charcot-Marie-Tooth disease（CMT） is a group of peripheral nervous system single gene inheritance disease with high genetic heterogeneity,most being autosomal dominant inheritance.X-linked inheritance Charcot-Marie-Tooth（CMTX） is the second common type,most starting from childhood or youth,presenting slowly progressive asymmetric muscle weakness and atrophy of far-end upper or lower limb,especially of far-end lower limbs,manifesting as typical ＂crane-leg-like＂ malformation.Clinically,the extent of involvement is greater in male CMTX patients than in female,and electromyogram（EMG） presented with prolonged insertion potential,fibrillation potential and positive phase potentials appeared,motor unit potential time frame,amplitude,voltage increased,showing great potential（above 4 000 UV） and increased polyphasic potential,etc.So far,it is considered that CMTX is induced by connexin 32（Cx32） gene mutations,so inducing the normal expression of Cx32 gene may be the key of CMTX gene treatment.