Genomics Research Centre, Griffith Health Institute, Griffith University, Gold Coast Campus, Southport, QLD, Australia.
Headache. 2012 Mar;52(3):515-20. doi: 10.1111/j.1526-4610.2012.02106.x. Epub 2012 Feb 29.
Migraine is a common neurological disorder and is characterized by debilitating head pain and an assortment of additional symptoms which can include nausea, emesis, photophobia, phonophobia, and occasionally, visual sensory disturbances. A number of genes have been implicated in the pathogenesis of this disease, including genes involved in regulating the vascular system. Of particular importance are the methylenetetrahydrofolate reductase (MTHFR) gene and the role it plays in migraine with aura. Migraine with aura has previously been shown to have a significant comorbidity with stroke, making the vascular class of genes a priority for migraine studies. In this report, we outline the importance of the MTHFR gene in migraine and also discuss the use of a genetic isolate to investigate MTHFR genetic variants. From this study, 3 MTHFR single nucleotide polymorphisms showing association with migraine in the Norfolk Island population have been identified, thus reinforcing the potential role of MTHFR in migraine susceptibility. Further studies will continue to build a gene profile of variants involved in the complex disease migraine and improve understanding of the underlying genetic causes of this disorder.
偏头痛是一种常见的神经障碍，其特征是使人虚弱的头痛和一系列其他症状，包括恶心、呕吐、畏光、畏声，偶尔还会出现视觉感觉障碍。许多基因与这种疾病的发病机制有关，包括参与调节血管系统的基因。特别重要的是亚甲基四氢叶酸还原酶（MTHFR）基因及其在偏头痛伴先兆中的作用。偏头痛伴先兆以前曾被证明与中风有显著的共病性，使血管类基因成为偏头痛研究的重点。在本报告中，我们概述了 MTHFR 基因在偏头痛中的重要性，并讨论了使用遗传隔离来研究 MTHFR 基因变异。从这项研究中，我们已经确定了 3 个与诺福克岛人群偏头痛相关的 MTHFR 单核苷酸多态性，从而进一步证实了 MTHFR 在偏头痛易感性中的潜在作用。进一步的研究将继续构建涉及复杂疾病偏头痛的基因变异图谱，并加深对这种疾病潜在遗传原因的理解。
