Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease

作     者：Nadège Hertzog Claire Jacob Nadege Hertzog;Claire Jacob

作者机构：Faculty of BiologyInstitute of Developmental Biology and NeurobiologyJohannes Gutenberg University MainzHanns-Dieter-Hüsch-WegMainzGermany 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2023年第18卷第9期

页      面：1931-1939页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学] 

基　　金：supported by the Deutsche Forschungsgemeinshaft (to CJ) 

主　　题：Charcot-Marie-Tooth disease rodent models emerging treatments demyelination and dysmyelination endoplasmic reticulum stress gene therapy myelin repair Schwann cells unfolded protein response 

摘      要：Schwann cells,the myelinating glia of the peripheral nervous system,wrap axons multiple times to build their myelin *** is of paramount importance for axonal integrity and fast axon potential ***,myelin is lacking or dysfunctional in several neuropathies including demyelinating and dysmyelinating Charcot-M arie-To oth ***-Marie-To oth disease represents the most prevalent inherited neuropathy in humans and is classified either as axonal,demyelinating or dysmyelinating,or as *** demyelinating or dysmyelinating forms of Charcot-Marie-Tooth disease constitute the majority of the disease cases and are most frequently due to mutations in the three following myelin genes:peripheral myelin protein 22,myelin protein ze ro and gap junction beta 1(coding for Connexin 32) causing Charcot-M arie-Tooth disease type 1A,Charcot-Marie-Tooth disease type 1B,and X-linked Charcot-M arie-Tooth disease type 1,*** resulting perturbation of myelin structure and function leads to axonal demyelination or dysmyelination and causes severe disabilities in affected *** treatment to cure or slow down the disease progression is currently available on the market,howeve r,scientific discoveries led to a better understanding of the pathomechanisms of the disease and to potential treatment *** this review,we describe the features and molecular mechanisms of the three main demyelinating or dysmyelinating forms of Charcot-Marie-Tooth disease,the rodent models used in research,and the emerging therapeutic approaches to cure or counteract the progression of the disease.