Publication Date
Fall 2025
Degree Type
Master's Project
Degree Name
Master of Science in Bioinformatics (MSBI)
Department
Computer Science
First Advisor
Dr. Leonard Wesley
Second Advisor
Dr. William Andreopoulos
Third Advisor
Dr. Ningkun Wang
Keywords
Alzheimer’s Disease, TARDBP, TDP-43, Epigenetics, Genes, Neurodegenerative Disease
Abstract
Alzheimer’s disease (AD), a neurodegenerative disease generally known to be one of the causes of dementia, continues to be the subject of research. TDP-43, a DNA-binding protein, was linked to other neurodegenerative diseases, yet its role in AD prognosis remains unknown. Recent studies have shown that 30% - 40% of cognitively normal (CN) individuals display the hallmarks of AD (Aβ and tau buildup) but are not diagnosed with the disease. This indicates the possible existence of a protective mechanism to counter the effects of Aβ and tau buildup. The work reported here utilized the ADNI study dataset and the Programming language Python to analyze the significance of TDP-43 and aimed to link TDP-43 expression to AD prognosis. AV45 PET scans of 138 CN subjects were analyzed to determine Aβ buildup and location. Gene expression data for AD, CN, and MCI subjects from the ADNI were analyzed using statistical hypothesis testing to determine if TDP-43 gene expression played a role in AD diagnosis. No statistical significance of TDP-43 was found between the three studied groups. These findings fail to link TDP-43 gene expression to AD prognosis due to limited and incomplete data; further research is necessary to determine if TDP-43 plays a significant role in AD. All data were obtained from the ADNI website (https://adni.loni.usc.edu/).
Recommended Citation
Salameh, Fatema, "Epigenetic Insights into TDP-43: Uncovering Mechanisms Behind Resilience to Alzheimer's Diagnosis Regardless of Aβ and Tau buildup" (2025). Master's Projects. 1589.
DOI: https://doi.org/10.31979/etd.8nev-863b
https://scholarworks.sjsu.edu/etd_projects/1589
