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PMID: 25374586 已发表 · ppublish 英语

Genetic factors for nerve susceptibility to injuries - lessons from PMP22 deficiency.

Neural regeneration research ·第 9 卷 ·第 18 期 ·2014-11-06

Li Jun

摘要

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.

关键词
Charcot-Marie-Tooth disease PMP22 action potential propagation adherens junction myelin myelin permeability nerve injury peripheral myelin protein-22 tight junction
文献信息
期刊
Neural regeneration research
期刊简称
Neural Regen Res
发表日期
2014-11-06
收录日期
2014-11-06
更新日期
2016-10-19
语言
英语
国家/地区
India
NLM ID
101316351
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