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Neuropathology-driven Whole-genome Sequencing Study Points to Novel... » Isaúde
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Alzheimer Disease and Associated Disorders
2019-01-01 06:00:00

Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging

Descrição: Purpose: Understanding the healthy brain aging process is key to uncover the mechanisms that lead to pathologic age-related neurodegeneration, including progression to Alzheimer disease (AD). We aimed to address the issue of pathologic heterogeneity that often underlies a clinical AD diagnosis. Methods: We performed a deep whole-genome sequencing study aiming to identify variants that are associated specifically with healthy brain aging. Patients: We examined samples from the community-based longitudinal Vienna Transdanubian Aging study comparing neuropathologically -healthy- aging in individuals above 80 years of age with pure AD patients of the same age. Results: Focusing on potentially functional variants, we discovered a single variant (rs10149146) that lies on the autophagy-associated TECPR2 gene and was carried by 53.6% of the -healthy- brain elderly individuals (15/28). An additional nonsynonymous variant on the CINP gene (encoding a cell cycle checkpoint protein) was also found in 46% of healthy controls. Both variants are absent from all AD cases. TECPR2 and CINP appear to be -partner- genes in terms of regulation and their associated transcription factors have been previously implicated in AD and neurodegeneration. Conclusions: Our study underlines the strength of neuropathology-driven definitions in genetic association studies and points to a potentially neuroprotective effect of key molecules of autophagy and cell cycle control.

Seção: Original Articles
Volume: 0
Autor: Gilsanz, Paola; Mayeda, Elizabeth Rose; Glymour, M.Maria; Quesenberry, Charles P. Jr; Mungas, Dan; DeCarli, Charles S.; Whitmer, Rachel A.

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