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阿尔茨海默病与躯体胰岛素相关疾病重叠的分子特征。

Molecular landscape of the overlap between Alzheimer's disease and somatic insulin-related diseases.

机构信息

Department of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Alzheimers Res Ther. 2024 Oct 28;16(1):239. doi: 10.1186/s13195-024-01609-2.

Abstract

Alzheimer's disease (AD) is a multifactorial disease with both genetic and environmental factors contributing to its etiology. Previous evidence has implicated disturbed insulin signaling as a key mechanism that plays a role in both neurodegenerative diseases such as AD and comorbid somatic diseases such as diabetes mellitus type 2 (DM2). In this study, we analysed available genome-wide association studies (GWASs) of AD and somatic insulin-related diseases and conditions (SID), i.e., DM2, metabolic syndrome and obesity, to identify genes associated with both AD and SID that could increase our insights into their molecular underpinnings. We then performed functional enrichment analyses of these genes. Subsequently, using (additional) GWAS data, we conducted shared genetic etiology analyses between AD and SID, on the one hand, and blood and cerebrospinal fluid (CSF) metabolite levels on the other hand. Further, integrating all these analysis results with elaborate literature searches, we built a molecular landscape of the overlap between AD and SID. From the landscape, multiple functional themes emerged, including insulin signaling, estrogen signaling, synaptic transmission, lipid metabolism and tau signaling. We also found shared genetic etiologies between AD/SID and the blood/CSF levels of multiple metabolites, pointing towards "energy metabolism" as a key metabolic pathway that is affected in both AD and SID. Lastly, the landscape provided leads for putative novel drug targets for AD (including MARK4, TMEM219, FKBP5, NDUFS3 and IL34) that could be further developed into new AD treatments.

摘要

阿尔茨海默病(AD)是一种多因素疾病,遗传和环境因素都与其发病机制有关。先前的证据表明,胰岛素信号紊乱是一种关键机制,它在神经退行性疾病(如 AD)和合并躯体疾病(如 2 型糖尿病(DM2))中都发挥作用。在这项研究中,我们分析了 AD 和与躯体胰岛素相关的疾病和病症(SID)(即 DM2、代谢综合征和肥胖症)的全基因组关联研究(GWAS),以确定与 AD 和 SID 都相关的基因,这些基因可能会增加我们对其分子基础的了解。然后,我们对这些基因进行了功能富集分析。随后,我们使用(额外的)GWAS 数据,对 AD 和 SID 之间的遗传病因进行了共享分析,一方面是 AD 和 SID,另一方面是血液和脑脊液(CSF)代谢物水平。此外,我们将所有这些分析结果与精心的文献搜索相结合,构建了 AD 和 SID 之间重叠的分子景观。从该景观中,出现了多个功能主题,包括胰岛素信号、雌激素信号、突触传递、脂质代谢和 tau 信号。我们还发现 AD/SID 与血液/CSF 中多种代谢物水平之间存在共同的遗传病因,这表明“能量代谢”是受 AD 和 SID 影响的关键代谢途径。最后,该景观为 AD 的潜在新型药物靶点(包括 MARK4、TMEM219、FKBP5、NDUFS3 和 IL34)提供了线索,这些靶点可以进一步开发为新的 AD 治疗方法。

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