Suppr超能文献

阐明阿尔茨海默病中 BACE1 调节因子 GGA3。

Elucidation of the BACE1 regulating factor GGA3 in Alzheimer's disease.

机构信息

Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.

出版信息

J Alzheimers Dis. 2013;37(1):217-32. doi: 10.3233/JAD-130104.

Abstract

Golgi-localized γ-ear-containing ADP-ribosylation factor-binding protein (GGA3) is a central regulator of trafficking and degradation of BACE1 (β-site AβPP-cleaving enzyme), the rate-limiting enzyme in the production of amyloid-β (Aβ) in Alzheimer's disease (AD). Here, we assessed the potential role of GGA3 in AD pathogenesis using independent neuropathological, case-control, and family-based human sample cohorts. Increased BACE1 levels coincided with decreased GGA3 levels and with elevated phosphorylation status of eIF2α-Ser51 in the temporal cortex of AD patients as compared to age-matched controls. Severity of the disease did not alter mRNA or protein levels of GGA3 in the inferior temporal cortex of AD patients, while a positive correlation between GGA3 and the levels of total, but not phosphorylated, tau was observed. Genetically, we did not observe consistent evidence for association between AD risk and common GGA3 polymorphisms across a number of independent sample cohorts. However, a nominally significant association was observed with rs2242230 (p < 0.05) among the Finnish case-control cohort. Accordingly, mRNA and protein levels of GGA3 in the inferior temporal cortex of AD patients did not significantly correlate with rs2242230 genotype status. While the present study indicates that GGA3 is involved in the cellular processes relevant for AD pathogenesis, the genetic data do not support the idea that common GGA3 polymorphisms would contribute to AD risk.

摘要

高尔基定位的 γ 耳含 ADP-核糖基化因子结合蛋白(GGA3)是 BACE1(β-淀粉样前体蛋白切割酶)运输和降解的核心调节剂,BACE1 是阿尔茨海默病(AD)中淀粉样β(Aβ)产生的限速酶。在这里,我们使用独立的神经病理学、病例对照和基于家族的人类样本队列评估了 GGA3 在 AD 发病机制中的潜在作用。与年龄匹配的对照组相比,AD 患者颞叶皮质中 BACE1 水平升高,同时 GGA3 水平降低,eIF2α-Ser51 磷酸化状态升高。AD 患者下颞叶皮质中 GGA3 的 mRNA 或蛋白水平不因疾病严重程度而改变,而 GGA3 与总tau(而非磷酸化 tau)水平之间存在正相关。遗传上,我们没有观察到 AD 风险与多个独立样本队列中常见 GGA3 多态性之间的一致关联证据。然而,在芬兰病例对照队列中,rs2242230 观察到了名义上显著的关联(p<0.05)。因此,AD 患者下颞叶皮质中的 GGA3 mRNA 和蛋白水平与 rs2242230 基因型状态无显著相关性。虽然本研究表明 GGA3 参与了与 AD 发病机制相关的细胞过程,但遗传数据不支持常见 GGA3 多态性会增加 AD 风险的观点。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验