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编码SERPINA5变体E228Q不会对阿尔茨海默病的临床病理特征产生影响:一个横截面研究

Billie J Matchett¹, Sarah J Lincoln¹, Matt Baker¹

¹Department of Neuroscience, Mayo Clinic, Jacksonville, FL.

|June 16, 2023

概括

研究了SERPINA5基因中的遗传变异,以确定它们在阿尔茨海默氏症 (AD) 病理学中的作用. 虽然SERPINA5与tau结合,但p.E228Q变体没有显著改变AD临床病理学表型.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
病理学病理学病理学

背景情况:

增加SERPINA5基因表达与阿尔茨海默病 (AD) 中海马脆弱性有关.
塞尔皮纳5是神经纤维状团中发现的一种陶结合伙伴.

研究的目的:

调查SERPINA5基因中的遗传变异是否有助于AD的临床病理学表型.
评估SERPINA5 p.E228Q变体在AD患者中的频率和影响.

主要方法:

在103个具有家族病史的年轻发病AD病例中测序SERPINA5.
对1114个额外的AD病例进行了查,用于SERPINA5 p.E228Q变异.
在变异载体和匹配的非载体中对SERPINA5和tau的免疫组织化学评估.

主要成果:

一种罕见的误解变体,SERPINA5 p.E228Q (rs140138746),在AD病例中被确定为0.0021的等位基频率.
携带者和非携带者之间没有发现人口统计或临床病理学特征的显著差异.
虽然趋势表明携带者更年轻的发病和更长的疾病持续时间,但这些并不具有统计学意义. 在载体中,神经元损失更严重,而SERPINA5与成熟和幽灵结结合.

结论:

塞尔皮纳5基因变异,特别是p.E228Q,似乎不是导致阿尔茨海默病临床病理差异的主要因素.
塞尔皮纳5免疫阳性神经元经历了一种病理过程,与纠成熟度相关.

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