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偏头痛:基因突变及其功能后果

Migraine: gene mutations and functional consequences.

作者信息

van den Maagdenberg Arn M J M, Haan Joost, Terwindt Gisela M, Ferrari Michel D

机构信息

Department of Human Genetics, Leiden, The Netherlands.

出版信息

Curr Opin Neurol. 2007 Jun;20(3):299-305. doi: 10.1097/WCO.0b013e3281338d1f.

Abstract

PURPOSE OF REVIEW

Genetic and functional studies of mutations in familial hemiplegic migraine reveal a major role for disturbed ion transport. Gene identification in common, multifactorial migraine remains challenging.

RECENT FINDINGS

Several new mutations have been identified in FHM1, FHM2 and FHM3 genes. Functional consequences of familial hemiplegic migraine mutations point to an important role for cortical spreading depression in migraine pathophysiology. New genetic approaches have been tested in common migraine - novel chromosomal loci - but no gene variants have been identified.

SUMMARY

Identification and analysis of gene mutations in familial hemiplegic migraine revealed a major role for disturbed ion transport in this disorder. Cellular and transgenic mouse models of familial hemiplegic migraine genes suggest that increased potassium and glutamate play a role in the pathophysiology of the disorder. Despite progress, no genes have been discovered for common migraine.

摘要

综述目的

对家族性偏瘫性偏头痛突变的基因和功能研究揭示了离子转运紊乱的主要作用。在常见的多因素偏头痛中进行基因鉴定仍然具有挑战性。

最新发现

在FHM1、FHM2和FHM3基因中已鉴定出几种新的突变。家族性偏瘫性偏头痛突变的功能后果表明皮质扩散性抑制在偏头痛病理生理学中起重要作用。已在常见偏头痛中测试了新的遗传方法——新的染色体位点——但尚未鉴定出基因变异。

总结

家族性偏瘫性偏头痛基因突变的鉴定和分析揭示了离子转运紊乱在该疾病中的主要作用。家族性偏瘫性偏头痛基因的细胞和转基因小鼠模型表明,钾和谷氨酸增加在该疾病的病理生理学中起作用。尽管取得了进展,但尚未发现常见偏头痛的相关基因。

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