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离子通道病与偏头痛发病机制。

Ion channelopathies and migraine pathogenesis.

作者信息

Albury Cassie L, Stuart Shani, Haupt Larisa M, Griffiths Lyn R

机构信息

Genomics Research Centre, Institute for Biomedical Health and Innovation, Queensland University of Technology, Brisbane, QLD, 4059, Australia.

出版信息

Mol Genet Genomics. 2017 Aug;292(4):729-739. doi: 10.1007/s00438-017-1317-1. Epub 2017 Apr 7.

DOI:10.1007/s00438-017-1317-1
PMID:28389699
Abstract

Migraine is a common neurological disorder that affects approximately 12-20% of the general adult population. Migraine pathogenesis is complex and not wholly understood. Molecular genetic investigations, imaging and biochemical studies, have unveiled a number of interconnected neurological pathways which seem to have a cause and effect component integral to its cause. Much weight of migraine attack initiation can be placed on the initial trigger and the pathways involved in its neuronal counter reaction. Ion channels play a large role in the generation, portrayal and mitigation of the brains response to external triggers. Several genetic studies have identified and implicated a number of ion channelopathy genes which may contribute to this generalised process. This review will focus on the genetics of migraine with particular emphasis placed on the potentially important role genes HEPH (responsible for iron transport and homeostasis) and KCNK18 (important for the transport and homeostasis of potassium) play in migraine cause.

摘要

偏头痛是一种常见的神经系统疾病,影响着约12%至20%的成年普通人群。偏头痛的发病机制复杂,尚未完全明确。分子遗传学研究、影像学和生物化学研究揭示了一些相互关联的神经通路,这些通路似乎在其病因中具有因果关系成分。偏头痛发作的起始很大程度上取决于初始触发因素及其神经元反应所涉及的通路。离子通道在大脑对外部触发因素的反应的产生、表现和缓解中起着重要作用。多项遗传学研究已经确定并牵连了一些可能导致这一普遍过程的离子通道病基因。本综述将聚焦于偏头痛的遗传学,特别强调基因HEPH(负责铁运输和体内平衡)和KCNK18(对钾的运输和体内平衡很重要)在偏头痛病因中可能发挥的重要作用。

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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.对37.5万人的荟萃分析确定了38个偏头痛易感基因座。
Nat Genet. 2016 Aug;48(8):856-66. doi: 10.1038/ng.3598. Epub 2016 Jun 20.
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Complicated Migraines.复杂性偏头痛
Semin Pediatr Neurol. 2016 Feb;23(1):18-22. doi: 10.1016/j.spen.2016.01.007. Epub 2016 Jan 22.
3
Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.基因共表达分析确定了偏头痛病理生理学中涉及的脑区和细胞类型:一项基于全基因组关联研究(GWAS)并使用艾伦人类大脑图谱的研究。
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Management of Migraine-Associated Vestibulocochlear Disorders.偏头痛相关性前庭蜗神经疾病的管理
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Human Brain Organoids in Migraine Research: Pathogenesis and Drug Development.人类脑类器官在偏头痛研究中的应用:发病机制与药物研发。
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Highly Parallelized, Multicolor Optogenetic Recordings of Cellular Activity for Therapeutic Discovery Applications in Ion Channels and Disease-Associated Excitable Cells.用于离子通道和疾病相关可兴奋细胞治疗发现应用的细胞活动高度并行化多色光遗传学记录。
Front Mol Neurosci. 2022 Jul 4;15:896320. doi: 10.3389/fnmol.2022.896320. eCollection 2022.
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