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偏头痛是一种遗传性疾病吗?各种形式的偏头痛都有一个共同的遗传病因。

Is migraine a genetic illness? The various forms of migraine share a common genetic cause.

作者信息

Russell Michael Bjørn

机构信息

Head and Neck Research Group, Akershus University Hospital, Dr. Kobros vei 39, 1474 Nordbyhagen, Oslo, Norway.

出版信息

Neurol Sci. 2008 May;29 Suppl 1:S52-4. doi: 10.1007/s10072-008-0887-4.

DOI:10.1007/s10072-008-0887-4
PMID:18545897
Abstract

Is migraine a genetic illness? This question was previously controversial, but today the answer yes is generally accepted. The scientific evidence is the significantly increased familial risk of migraine, and the significantly higher concordance rate of migraine in monozygotic than dizygotic twin pairs. Finally, the three identified ion-channel genes that can cause familial hemiplegic migraine provide very strong evidence of genetics. Mutations in these genes can also cause sporadic hemiplegic migraine. The next question is whether the different types of migraine, i.e. migraine without aura, migraine with aura, sporadic hemiplegic migraine and familial hemiplegic migraine share a common genetic cause. This question is at present controversial. However, the fact that all types of migraine are paroxystic in nature suggest that a common genetic cause could be mutations in ion channels, although a common mutation has not yet been identified in the more common types of migraine: migraine without aura and migraine with aura.

摘要

偏头痛是一种遗传性疾病吗?这个问题以前存在争议,但如今答案是肯定的这一观点已被普遍接受。科学证据包括偏头痛的家族风险显著增加,以及单卵双胞胎比双卵双胞胎的偏头痛一致性率显著更高。最后,已确定的三个可导致家族性偏瘫性偏头痛的离子通道基因提供了非常有力的遗传学证据。这些基因的突变也可导致散发性偏瘫性偏头痛。下一个问题是,不同类型的偏头痛,即无先兆偏头痛、有先兆偏头痛、散发性偏瘫性偏头痛和家族性偏瘫性偏头痛是否有共同的遗传病因。这个问题目前存在争议。然而,所有类型的偏头痛本质上都是发作性的这一事实表明,共同的遗传病因可能是离子通道突变,尽管在更常见的偏头痛类型:无先兆偏头痛和有先兆偏头痛中尚未发现共同的突变。

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Is migraine a genetic illness? The various forms of migraine share a common genetic cause.偏头痛是一种遗传性疾病吗?各种形式的偏头痛都有一个共同的遗传病因。
Neurol Sci. 2008 May;29 Suppl 1:S52-4. doi: 10.1007/s10072-008-0887-4.
2
Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus.位于19号染色体p13上的伴先兆偏头痛易感性位点与家族性偏瘫性偏头痛位点不同。
Genomics. 2001 Dec;78(3):150-4. doi: 10.1006/geno.2001.6665.
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Wolff Award 1997. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Dutch Migraine Genetics Research Group.1997年沃尔夫奖。一个钙离子通道基因与家族性偏瘫性偏头痛以及有无先兆偏头痛的关系。荷兰偏头痛遗传学研究小组。
Headache. 1997 Sep;37(8):479-85. doi: 10.1046/j.1526-4610.1997.3708479.x.
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[Molecular genetic findings in migraine].[偏头痛的分子遗传学发现]
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Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.与突触传递相关的基因中罕见移码缺失的负担更高,可将家族性偏瘫性偏头痛与常见类型的偏头痛区分开来。
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[Genetics of migraine].[偏头痛的遗传学]
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Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura.
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引用本文的文献

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Endogenous Na+, K+-ATPase inhibitors and CSF [Na+] contribute to migraine formation.内源性 Na+、K+-ATP 酶抑制剂和 CSF [Na+] 有助于偏头痛的形成。
PLoS One. 2019 Jun 7;14(6):e0218041. doi: 10.1371/journal.pone.0218041. eCollection 2019.
2
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.ATP1A2基因的一个错义变异与一种与偏头痛相关的进行性感音神经性听力损失的新表型有关。
Eur J Hum Genet. 2015 May;23(5):639-45. doi: 10.1038/ejhg.2014.154. Epub 2014 Aug 20.
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Monozygotic twin sisters discordant for familial hemiplegic migraine.

本文引用的文献

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Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.对39例散发性偏瘫型偏头痛患者的三个家族性偏瘫型偏头痛(FHM)基因进行系统分析。
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Sporadic hemiplegic migraine is an aetiologically heterogeneous disorder.散发性偏瘫性偏头痛是一种病因学上异质性的疾病。
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Evidence for a separate type of migraine with aura: sporadic hemiplegic migraine.伴有先兆的另一种偏头痛类型的证据:散发性偏瘫性偏头痛。
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Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.编码与2型家族性偏瘫性偏头痛相关的钠钾泵α2亚基的ATP1A2单倍体不足。
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