Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations

Abstract Developing effective treatments for Alzheimer’s disease (AD) likely requires a deep understanding of molecular mechanisms. Integration of transcriptomic datasets and developing innovative computational analyses may yield novel molecular targets with broad applicability. The motivation for t...

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Main Authors: Fernando Koiti Tsurukawa, Yixiang Mao, Cesar Sanchez-Villalobos, Nishtha Khanna, Chiquito J. Crasto, J. Josh Lawrence, Ranadip Pal
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-01017-y
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author Fernando Koiti Tsurukawa
Yixiang Mao
Cesar Sanchez-Villalobos
Nishtha Khanna
Chiquito J. Crasto
J. Josh Lawrence
Ranadip Pal
author_facet Fernando Koiti Tsurukawa
Yixiang Mao
Cesar Sanchez-Villalobos
Nishtha Khanna
Chiquito J. Crasto
J. Josh Lawrence
Ranadip Pal
author_sort Fernando Koiti Tsurukawa
collection DOAJ
description Abstract Developing effective treatments for Alzheimer’s disease (AD) likely requires a deep understanding of molecular mechanisms. Integration of transcriptomic datasets and developing innovative computational analyses may yield novel molecular targets with broad applicability. The motivation for this study was conceived from two main observations: (a) most transcriptomic analyses of AD data consider univariate differential expression analysis, and (b) insights are often not transferable across studies. We designed a machine learning-based framework that can elucidate interpretable multivariate relationships from multiple human AD studies to discover robust transcriptomic AD biomarkers transferable across multiple studies. Our analysis of three human hippocampus datasets revealed multiple robust synergistic associations from unrelated pathways along with inconsistencies of gene associations across different studies. Our study underscores the utility of developing AI-assisted next-gen metrics for integration, robustness, and generalization and also highlights the potential benefit of elucidating molecular mechanisms and pathways that are important in targeting a single population.
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spelling doaj-art-9a3699e840c74200a0a355d4a86b354a2025-08-20T03:53:12ZengNature PortfolioScientific Reports2045-23222025-05-0115111310.1038/s41598-025-01017-yCross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitationsFernando Koiti Tsurukawa0Yixiang Mao1Cesar Sanchez-Villalobos2Nishtha Khanna3Chiquito J. Crasto4J. Josh Lawrence5Ranadip Pal6Department of Electrical and Computer Engineering, Texas Tech UniversityDepartment of Electrical and Computer Engineering, Texas Tech UniversityDepartment of Electrical and Computer Engineering, Texas Tech UniversityCenter for Biotechnology and Genomics, Texas Tech UniversityCenter for Biotechnology and Genomics, Texas Tech UniversityDepartment of Pharmacology and Neuroscience, Garrison Institute on Aging, Center of Excellence for Translational Neuroscience and Therapeutics, and Center of Excellence in Integrative Health, Texas Tech University Health Sciences CenterDepartment of Electrical and Computer Engineering, Texas Tech UniversityAbstract Developing effective treatments for Alzheimer’s disease (AD) likely requires a deep understanding of molecular mechanisms. Integration of transcriptomic datasets and developing innovative computational analyses may yield novel molecular targets with broad applicability. The motivation for this study was conceived from two main observations: (a) most transcriptomic analyses of AD data consider univariate differential expression analysis, and (b) insights are often not transferable across studies. We designed a machine learning-based framework that can elucidate interpretable multivariate relationships from multiple human AD studies to discover robust transcriptomic AD biomarkers transferable across multiple studies. Our analysis of three human hippocampus datasets revealed multiple robust synergistic associations from unrelated pathways along with inconsistencies of gene associations across different studies. Our study underscores the utility of developing AI-assisted next-gen metrics for integration, robustness, and generalization and also highlights the potential benefit of elucidating molecular mechanisms and pathways that are important in targeting a single population.https://doi.org/10.1038/s41598-025-01017-yAlzheimer’s diseaseMultivariate analysisMachine learningRNA sequencingTranscriptomicsKCNIP1
spellingShingle Fernando Koiti Tsurukawa
Yixiang Mao
Cesar Sanchez-Villalobos
Nishtha Khanna
Chiquito J. Crasto
J. Josh Lawrence
Ranadip Pal
Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
Scientific Reports
Alzheimer’s disease
Multivariate analysis
Machine learning
RNA sequencing
Transcriptomics
KCNIP1
title Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
title_full Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
title_fullStr Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
title_full_unstemmed Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
title_short Cross study transcriptomic investigation of Alzheimer’s brain tissue discoveries and limitations
title_sort cross study transcriptomic investigation of alzheimer s brain tissue discoveries and limitations
topic Alzheimer’s disease
Multivariate analysis
Machine learning
RNA sequencing
Transcriptomics
KCNIP1
url https://doi.org/10.1038/s41598-025-01017-y
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AT cesarsanchezvillalobos crossstudytranscriptomicinvestigationofalzheimersbraintissuediscoveriesandlimitations
AT nishthakhanna crossstudytranscriptomicinvestigationofalzheimersbraintissuediscoveriesandlimitations
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