677-MTHFR突变偏头痛患者的联合代谢组学和仪器分析。

Pierangela Giustetto, William Liboni, Ornella Mana, Gianni Allais, Chiara Benedetto, Filippo Molinari
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引用次数: 3

摘要

偏头痛是一种神经系统疾病,与脑血管病变风险增加有关。MTHFR基因的基因突变与偏头痛和动脉病变的风险增加有关。此外,偏头痛患者表现出血液化学参数的改变,这与血小板聚集机制受损有关。因此,偏头痛的血管评估是最重要的。经颅多普勒超声(TCD)用于测量脑血流速度(CBFV)和血管舒缩反应性(通过屏气时测量的指数- BHI)。本研究的目的是研究T/T677-MTHFR和C/T677-MTHFR突变偏头痛患者的代谢谱及其与CBFV和BHI的相关性。使用代谢组学多维技术对受试者进行描述和聚类。50名患有偏头痛的女性(年龄:18-64岁;21例先兆)接受TCD检查、血液化学分析、Born试验和MTHFR突变基因检测。T/T677突变14例(7例有先兆),C/T677突变18例(8例有先兆),无突变18例(6例有先兆)。变量总数为24个。非监督技术和监督技术显示CBFV和BHI与突变相关。判别分析以95.9%的敏感性和89.0%的特异性对受试者进行分类。Aura与仪器数据的突变或变异无关。我们的研究表明,代谢组学可以有效地应用于临床问题,以显示病理复杂系统的整体相关结构。具体来说,我们的结果证实了TCD在偏头痛患者的代谢分析和随访中的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Joint Metabonomic and Instrumental Analysis for the Classification of Migraine Patients with 677-MTHFR Mutations.

Migraine is a neurological disorder that correlates with an increased risk of cerebrovascular lesions. Genetic mutations of the MTHFR gene are correlated to migraine and to the increased risk of artery pathologies. Also, migraine patients show altered hematochemical parameters, linked to an impaired platelet aggregation mechanism. Hence, the vascular assessment of migraineurs is of primary importance.Transcranial Doppler sonography (TCD) is used to measure cerebral blood flow velocity (CBFV) and vasomotor reactivity (by an index measured during breath-holding - BHI). Aim of this study was the metabolic profiling of migraine subjects with T/T677-MTHFR and C/T677-MTHFR mutations and its correlation with CBFV and BHI.Metabonomic multidimensional techniques were used to describe and cluster subjects. Fifty women suffering from migraine (age: 18-64; 21 with aura) underwent TCD examination, hematochemical blood analysis, Born test, and genetic tests for MTHFR mutation. Fourteen (7 with aura) had T/T677, 18 (8 with aura) had C/T677, and 18 (6 with aura) had no mutation. The total number of variables was 24.Unsupervised and supervised techniques_showed the correlation between CBFV and BHI with mutation. Discriminant analysis allowed for classifying the subjects with 95.9% sensitivity and 89.0% specificity. Aura was not correlated to mutation or variations of instrumental data.Our study showed that metabonomics could be effectively applied in clinical problems to show the overall correlation structure of complex systems in pathology. Specifically, our results confirmed the importance of TCD in the metabolic profiling and follow-up of migraine patients.

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