Generation of a Human iPSC (ICSSUi002-A) with MTHFR SNP (rs1801133, TT) from Thoracic Aortic Dissection Patient.
Generation of a Human iPSC (ICSSUi002-A) with MTHFR SNP (rs1801133, TT) from Thoracic Aortic Dissection Patient.
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DOI：
10.1016/j.scr.2022.102753
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发表时间：
2022-03
影响因子：
1.2
通讯作者：
Jingze Zhu;Yihuan Chen;Xiangyu Cao;Qian Li;Lianbo Shao;Xiaomei Teng;You Yu;Zhenya Shen
中科院分区：
文献类型：
--
作者：
Jingze Zhu;Yihuan Chen;Xiangyu Cao;Qian Li;Lianbo Shao;Xiaomei Teng;You Yu;Zhenya Shen
胸主动脉夹层是一种严重的心血管疾病，其发病率逐年上升。rs1801133位点的纯合突变已被接受为突变MTHFR蛋白的酶活性降低，导致血液中同型半胱氨酸的积累。最近，同型半胱氨酸水平升高与心血管疾病的风险增加有因果关系。相反，rs1801133和胸主动脉夹层之间的关系知之甚少。在这里，产生的人诱导多能干细胞（iPSC）线提供了一种新的策略，调查MTHFR突变（rs1801133，TT）的潜在机制及其在胸主动脉夹层发病机制中的意义。
Thoracic aortic dissection is a devastating cardiovascular disease with an increasing annual incidence. The homozygous mutation in rs1801133 site has been accepted for decreased enzyme activity of mutant MTHFR protein, contributing to an accumulated homocysteine in blood. Recently, elevated homocysteine level is causally associated with an increased risk of cardiovascular disease. Conversely, the relationship between rs1801133 and thoracic aortic dissection is poorly understood. Here, the generated human induced pluripotent stem cell (iPSC) line provided a novel strategy for investigating the underlying mechanism of MTHFR mutation (rs1801133, TT) and its implication in the pathogenesis of thoracic aortic dissection.