中国神经再生研究(英文版) ›› 2014, Vol. 9 ›› Issue (18): 1661-1664.doi: 10.4103/1673-5374.141800

• 观点:周围神经损伤修复保护与再生 • 上一篇    下一篇

遗传因子对损伤神经的敏感性:从PMP22基因缺陷中总结的经验

  

  • 收稿日期:2014-08-30 出版日期:2014-09-26 发布日期:2014-09-26

Genetic factors for nerve susceptibility to injuries – lessons from PMP22 deficiency

Jun Li 1, 2   

  1. 1 Tennessee Valley Healthcare System, Nashville, VA, USA
    2 Department of Neurology, Center for Human Genetics Research, Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN, USA
  • Received:2014-08-30 Online:2014-09-26 Published:2014-09-26
  • Contact: Jun Li, M.D., Ph.D., Department of Neurology, Vanderbilt University School of Medicine, 1161 21th Avenue South, Nashville, TN 37232, USA, jun.li.2@vanderbilt.edu.
  • Supported by:

     This research is, in part, supported by grants from NINDS R01NS066927 and Department of Veterans Affairs R&D funds.

摘要:

我们对影响神经损伤,尤其是神经再生遗传因素的了解主要是从众多小鼠模型中得到的。单个基因在小鼠基因组中是失活的,但在这些小鼠中可观察到神经再生的情况。尽管我们已经从这些模型中了解到一些关键信息,但往往很难知道这些发现如何能够转化为人类研究。这种障碍壁垒主要是由于每个人的压力总是不同的,这导致科学家们很难进行人类神经损伤的对照研究。

Abstract:

Genetic factors may be learnt from families with gene mutations that render nerve-injury susceptibility even to ordinary physical activities. A typical example is hereditary neuropathy with liability to pressure palsies (HNPP). HNPP is caused by a heterozygous deletion of PMP22 gene. PMP22 deficiency disrupts myelin junctions (such as tight junction and adherens junctions), leading to abnormally increased myelin permeability that explains the nerve susceptibility to injury. This finding should motivate investigators to identify additional genetic factors contributing to nerve vulnerability of injury.

Key words: nerve injury, peripheral myelin protein-22, PMP22, Charcot-Marie-Tooth disease, myelin, tight junction, adherens junction, action potential propagation, myelin permeability