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Publications

Journal Article Epublish 2 citations

PubMed: 39134564 DOI: 10.1038/s41598-024-66693-8

Multiple Transcriptomic Analyses Explore Potential Synaptic Biomarker Rabphilin-3A for Alzheimer's Disease.

Sci Rep 14(1):18717

Authors: Doan Phuong Quy Nguyen, Son Pham, Amadou Wurry Jallow, Nguyen-Tuong Ho, Bao Le, Hung Tran Quang, Yi-Fang Lin, Yung-Feng Lin

Affiliations

  • Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, No. 301, Yuantong Rd. Zhonghe Dist. New Taipei City, 235, Taiwan.
  • Institute of Biomedicine, Hue University of Medicine and Pharmacy, Hue University, Hue, Vietnam.
  • BioTuring Inc. San Diego, CA, 92121, USA.
  • IVFMD, My Duc Hospital, Ho Chi Minh City, 700000, Vietnam.
  • Faculty of Pharmacy, Ton Duc Thang University, Ho Chi Minh City, Vietnam.
  • School of Medical Laboratory Science and Biotechnology, College of Medical Science and Technology, Taipei Medical University, New Taipei City, 235, Taiwan.
  • Department of Laboratory Medicine, Taipei Medical University-Shuang Ho Hospital, New Taipei City, 235, Taiwan.
  • Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, No. 301, Yuantong Rd. Zhonghe Dist. New Taipei City, 235, Taiwan.
  • School of Medical Laboratory Science and Biotechnology, College of Medical Science and Technology, Taipei Medical University, New Taipei City, 235, Taiwan.
  • Department of Laboratory Medicine, Taipei Medical University Hospital, Taipei City, 110, Taiwan.

Abstract

Alzheimer's disease (AD) is a prevalent neurodegenerative disorder afflicting the elderly population worldwide. The identification of potential gene candidates for AD holds promises for diagnostic biomarkers and therapeutic targets. Employing a comprehensive strategy, this study integrated transcriptomic data from diverse data sources, including microarray and single-cell datasets from blood and tissue samples, enabling a detailed exploration of gene expression dynamics. Through this thorough investigation, 19 notable candidate genes were found with consistent expression changes across both blood and tissue datasets, suggesting their potential as biomarkers for AD. In addition, single cell sequencing analysis further highlighted their specific expression in excitatory and inhibitory neurons, the primary functional units in the brain, underscoring their relevance to AD pathology. Moreover, the functional enrichment analysis revealed that three of the candidate genes were downregulated in synaptic signaling pathway. Further validation experiments significantly showed reduced levels of rabphilin-3A (RPH3A) in 3xTg-AD model mice, implying its role in disease pathogenesis. Given its role in neurotransmitter exocytosis and synaptic function, further investigation into RPH3A and its interactions with neurotrophic proteins may provide valuable insights into the complex molecular mechanisms underlying synaptic dysfunction in AD.

MeSH

Cells, Genes, Blood, Alzheimer Disease, Synaptic Potentials, Biomarkers, Natural Science Disciplines, Tissues