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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Analysis of ACTA2 in European Moyamoya disease patients.
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Analysis of ACTA2 in European Moyamoya disease patients.

机译：欧洲Moyamoya病患者中ACTA2的分析。

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摘要

The discovery of common genetic patterns in different system vascular diseases may provide important insights into the pathogenesis of these severe medical conditions. Recently, the coincidence of mutations in ACTA2 (vascular smooth muscle cell specific isoform of alpha-actin) in families with thoracic aortic aneurysms and dissections (TAAD) and Moyamoya disease (MMD) was reported in patients of Northern European descent and a positive family history for TAAD and MMD. In this study, we analyzed the nine exons of the ACTA2 gene in central European patients with non-familial MMD, aiming to replicate previously described genetic findings and possibly identify further mutations. DNA sequencing of the nine exons and flanking intronic regions of ACTA2 was performed in 39 MMD patients with no family history for MMD or TAAD and 68 healthy controls of central European descent with custom made primers. One new mutation (R179H, heterozygous) in exon 6 of ACTA2 was found in one patient with MMD. We were not able to detect other previously described mutations. In contrast to a previous report, we did not identify significant sequence variations in ACTA2. Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.
机译：在不同系统性血管疾病中常见遗传模式的发现可能为这些严重医学疾病的发病机理提供重要见解。最近，北欧血统患者和家族史呈阳性的家庭中报告了胸主动脉瘤和夹层（TAAD）和烟雾病（MMD）的家庭中ACTA2（α-肌动蛋白的血管平滑肌细胞特异性同工型）突变的同时发生用于TAAD和MMD。在这项研究中，我们分析了中欧非家族性MMD患者的ACTAA2基因的9个外显子，旨在复制先前描述的遗传发现并可能确定进一步的突变。在39名没有MMD或TAAD家族史的MMD患者中，对68个健康的中欧血统健康对照进行了定制引物，对ACTA2的9个外显子和侧翼内含子区域进行了DNA测序。在一名MMD患者中，ACTA2第6外显子出现了一个新突变（R179H，杂合）。我们无法检测到其他先前描述的突变。与以前的报告相反，我们没有在ACTA2中发现明显的序列变异。在更多的MMD和其他血管疾病队列中进一步对ACTA2和其他可能的致病基因进行综合分析，可以确定可能的常见致病机制。

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