《生命科学》 2010, 22(9): 863-868

PMP22及其相关疾病

郭家松1，李俊2*

（1 南方医科大学组织胚胎学教研室，广州 510515，中国；2 范德比尔特大学医学院神经科学系，纳什维尔 TN37232，美国）

摘　要：摘  要：由基因突变引起的外周神经病统称为Charcot-Marie-Tooth(CMT)病，它是最常见的遗传性神经系统疾病之一，发病率为1/2 500。目前已知有超过53个染色体位点和35个特定基因与CMT有关，但是大部分CMT都是由周围髓鞘蛋白22(PMP22)基因变异所引起的。该文重点对PMP22的生物学及相关疾病的病理生理学进行综述。
关键词：PMP22；遗传性感觉运动周围神经病；CMT1A；遗传性压力易感性神经疾病；施万细胞；髓鞘；轴突变性

PMP22 and its related diseases

Guo Jia-song1， LI Jun2*

(1 Department of Histology & Embryology， Southern Medical University， Guangzhou 510515， China; 2 Department of Neurology， School of Medicine， Vanderbilt University， Nashville， Tennessee TN37232， USA)

Abstract: Abstract: Mutations in human genes may cause peripheral neuropathies， which are collectively called as Charcot-Marie-Tooth disease (CMT). CMT affects one in 2 500 people， and is one of the most common inherited neurological disorders. There are now over 53 chromosomal loci and 35 specific genes that are linked to different types of CMT. Peripheral myelin protein-22 (PMP22) was discovered to be causal gene for the largest group of patients with CMT. The biology of PMP22 and the pathophysiology of its related diseases， were reviewed here.
Key words: PMP22; Charcot-Marie-Tooth disease; CMT1A; hereditary neuropathy with liability to pressure palsies; Schwann cell; myelin; axonal degeneration