Lee Samuel M, Chin Lih-Shen, Li Lian
Department of Pharmacology, Emory University School of Medicine, Atlanta, GA USA.
Commun Integr Biol. 2012 Jan 1;5(1):107-10. doi: 10.4161/cib.18638.
Peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT) are a group of neurological disorders that affect the peripheral nervous system. Although demyelinating CMT is the most prevalent hereditary peripheral neuropathy, there are currently no effective treatments for patients suffering from this disease. Recent studies by our group and others have provided a link between protein misfolding and demyelinating CMT and indicate that impairment of the proteasome and aggresome-autophagy pathways may contribute to CMT pathogenesis. These studies suggest that targeting protein quality control systems involved in cytoprotection against CMT-associated misfolded proteins could have therapeutic benefits for treating demyelinating CMT.
诸如夏科-马里-图斯病（CMT）之类的周围神经病变是一组影响周围神经系统的神经障碍。尽管脱髓鞘型CMT是最常见的遗传性周围神经病变，但目前对于患有这种疾病的患者尚无有效的治疗方法。我们团队和其他团队最近的研究揭示了蛋白质错误折叠与脱髓鞘型CMT之间的联系，并表明蛋白酶体和聚集体自噬途径的受损可能促成CMT的发病机制。这些研究表明，针对参与细胞保护以对抗与CMT相关的错误折叠蛋白的蛋白质质量控制系统进行干预，可能对治疗脱髓鞘型CMT具有治疗益处。
