PCSK9参与自闭症病因:序列变异,蛋白质度和促进物甲基化
Sohair Salem1, Rehab Mosaad1, Randa Lotfy1
1Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Archives of medical research
|July 27, 2023
概括
这项研究表明,Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) 可能与自闭症有关. 在患有自闭症的个体中观察到高PCSK9蛋白水平和改变的基因促进物甲基化.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物化学 生物化学
背景情况:
- 众所周知,Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) 的作用是对胆固醇的调节. 众所周知,Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) 的作用是对胆固醇的调节.
- PCSK9还在神经元发育和亡中发挥作用.
- 这项研究探讨了PCSK9和自闭症谱系障碍之间的潜在联系.
研究的目的:
- 研究自闭症患者PCSK9基因变异,蛋白质水平和促进物甲基化之间的关联.
- 为了确定PCSK9相关的潜在风险或自闭症的保护因素.
主要方法:
- 桑格测序PCSK9基因外基因和侧边内基因.
- 血PCSK9蛋白度的ELISA测定方法.
- 甲基化特异性PCR (MSP) 评估PCSK9基因促进物甲基化.
主要成果:
- 在43种已识别的PCSK9变异中,有7种显示自闭症病例与对照病例之间的频率差异,其中5种被确定为危险因素,2种为保护性因素.
- 与对照组相比,在自闭症病例中发现显著增加的血PCSK9蛋白度和显著降低的PCSK9基因促进物甲基化百分比.
- 接收器运行特征 (ROC) 曲线分析表明了血PCSK9蛋白度 (AUC=0.915) 的高诊断潜力.
结论:
- 这是第一个研究表明PCSK9和自闭症之间的相关性.
- PCSK9可能是自闭症的易感基因.
- 建议对更大的队列进行进一步的研究,以验证这些发现.
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