期刊
LANCET NEUROLOGY
卷 13, 期 6, 页码 587-599出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/S1474-4422(14)70024-9
关键词
-
资金
- Medical Research Council [MR/J012742/1] Funding Source: researchfish
- Medical Research Council [MR/J012742/1] Funding Source: Medline
- Wellcome Trust [095698, 100140, 102645] Funding Source: Medline
- MRC [MR/J012742/1] Funding Source: UKRI
he discovery of genetic variants that substantially alter an individual's perception of pain has led to a step-change in our understanding of molecular events underlying the detection and transmission of noxious stimuli by the peripheral nervous system. For example, the voltage-gated sodium ion channel Na(v)4.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Na(v)1.7, result in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and small-fibre neuropathy. Heterozygous mutations in TRPA1, which encodes the transient receptor potential cation channel, can cause familial episodic pain syndromes, and variants of genes coding for the voltage-gated sodium channels Na(v)4.8 (SCN10A) and Na(v)4.9 (SCN11A) lead to smallfibre neuropathy and congenital insensitivity to pain, respectively. Furthermore, other genetic polymorphisms have been identified that contribute to risk or severity of more complex pain phenotypes. Novel models of sensory disorders are in development-eg, using human sensory neurons differentiated from human induced pluripotent stem cells. Understanding rare heritable pain disorders not only improves diagnosis and treatment of patients but may also reveal new targets for analgesic drug development.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据