Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Towfique Raj, Yang Li, Garrett Wong, Jack Humphrey, Minghui Wang, Satesh Ramdhani, Ying‐Chih Wang, Bernard Ng, Ishaan Gupta, Vahram Haroutunian, Eric E. Schadt, Tracy L. Young‐Pearse, Sara Mostafavi, Bin Zhang, Pamela Sklar, David A. Bennett, Philip L. De Jager

Nature Genetics · 2018

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Summary

This integrative transcriptome study examined how RNA splicing patterns change during brain ageing and in Alzheimer's disease, using data from multiple autopsy-based cohorts. The authors identified altered splicing events associated with disease susceptibility, suggesting that dysregulated splicing is a mechanistic component of Alzheimer's pathology. The findings contribute to understanding molecular mechanisms of age-related neurodegeneration and may inform future therapeutic targets.

Regional applicability

The study's molecular findings on splicing mechanisms in neurodegeneration are broadly applicable to understanding Alzheimer's disease biology across populations. However, UK-specific clinical applicability would depend on translation into diagnostic or therapeutic tools validated in UK healthcare settings.

Key measures

RNA splicing patterns, transcriptomic signatures, Alzheimer's disease status, post-mortem brain tissue analyses

Outcomes reported

The study integrated transcriptomic analyses across multiple brain cohorts to identify altered RNA splicing patterns associated with age and Alzheimer's disease susceptibility. Findings implicate specific splicing events as potential mechanisms contributing to neurodegeneration.

Theme
Nutrition & health
Subject
Dietary patterns & chronic disease
Study type
Research
Study design
Observational cohort with integrative genomic analysis
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Human clinical
DOI
10.1038/s41588-018-0238-1
Catalogue ID
SNmoj7nvsf-foybxd

Topic tags

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