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Biology subjects

Leal, K.

Publications and source records attributed to Leal, K..

2 recordsLinked to original sources

Mapping cross-domain drivers of Alzheimer's disease risk through integrated network analysis

IntroductionAlzheimers Disease (AD) is a complex neurodegenerative disorder with numerous known risk factors. Identification of which genetic factors are causal drivers is difficult due to the long disease prodrome in an inaccessible organ. The application of integrative, systems-level approaches are crucial for addressing this complexity. MethodsSixteen biological domain specific interaction networks were derived from the top AD risk- enriched proteins within each domain. Weighted key driver analysis identified influential hub nodes within each network. ResultsDistinct processes and drivers were identified within each domains network. Domains including Structural Stabilization, Endolysosome, and Lipid Metabolism were especially influential. Integrating key drivers across domains identified consistent drivers such as CTNNB1, ACSL1, and ALDH3A2, suggesting fundamental roles contributing to AD risk. DiscussionThis highly integrative network-based approach identified context-dependent drivers and enabled the inference of interactions between domains. The identified drivers suggest potential targets for future therapeutic development.

systems biology↗

Kat5 cKO Biological Domain Signatures Align with Human Alzheimer Disease

BACKGROUNDAlzheimers disease (AD) is associated with amyloid plaques and can be caused by autosomal dominant mutations in APP or PSEN1/2, which form an enzyme substrate complex. Decreases in catalysis of AD mutant APP and PSEN1 supports the hypothesis that membrane delimitation of KAT5 could contribute to AD. METHODSWe compare the hippocampal transcriptome profiles of the Kat5 brain-specific knockout mouse to multiple AD datasets through alignment with the TREAT-AD AD biological domains. We examine KAT5 subcellular localization in human WT and AD neurons. RESULTSThe Kat5 KO mouse demonstrates downregulation of synaptic genes, metabolic pathways, and upregulation of DNA replication and repair, cell cycle and immune response genes. We see similar profiles in Kat5 and comparative AD datasets. KAT5 is restricted to the cytosol in human AD neurons. DISCUSSIONThis analysis supports the hypothesis that KAT5 nuclear signaling down stream of APP cleavage plays a pivotal role in neuronal homeostasis and immune regulation.

neuroscience↗