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与阿尔茨海默病相关的常见和罕见基因变异

Common and Rare Genetic Variants Associated With Alzheimer's Disease.

作者信息

Marei Hany E, Althani Asmaa, Suhonen Jaana, El Zowalaty Mohamed E, Albanna Mohammad A, Cenciarelli Carlo, Wang Tengfei, Caceci Thomas

机构信息

Biomedical Research Center, Qatar University, Doha, Qatar.

Department of Health Sciences, College of Arts and Science, Qatar University, Doha, Qatar.

出版信息

J Cell Physiol. 2016 Jul;231(7):1432-7. doi: 10.1002/jcp.25225. Epub 2015 Dec 17.

Abstract

Alzheimer's disease (AD) is one of the most devastating disorders. Despite the continuing increase of its incidence among aging populations, no effective cure has been developed mainly due to difficulties in early diagnosis of the disease before damaging of the brain, and the failure to explore its complex underlying molecular mechanisms. Recent technological advances in genome-wide association studies (GWAS) and high throughput next generation whole genome, and exome sequencing had deciphered many of AD-related loci, and discovered single nucleotide polymorphisms (SNPs) that are associated with altered AD molecular pathways. Highlighting altered molecular pathways linked to AD pathogenesis is crucial to identify novel diagnostic and therapeutic AD targets.

摘要

阿尔茨海默病(AD)是最具破坏性的疾病之一。尽管其在老年人群中的发病率持续上升,但由于在大脑受损之前难以对该疾病进行早期诊断,以及未能探究其复杂的潜在分子机制,目前尚未开发出有效的治疗方法。全基因组关联研究(GWAS)以及高通量下一代全基因组和外显子测序等近期技术进展已经破译了许多与AD相关的基因座,并发现了与AD分子途径改变相关的单核苷酸多态性(SNP)。突出与AD发病机制相关的改变的分子途径对于确定新的AD诊断和治疗靶点至关重要。

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