Alice Pan
Research Mentor: Yue Zhao
Mentor Department: Computational Medicine and Bioinformatics, Medicine
Author(s): Alice Pan, Xiayan Li, Yue Zhao
Session: Session 5 (2:00 PM – 2:50 PM)
Presentation Type: Poster 27
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which has no definitive diagnosis test. Its symptoms can overlap with other neurodegenerative diseases, including Alzheimer’s disease (AD) and Parkinson’s Disease (PD), which can complicate early differentiation. A neuropathological hallmark of ALS is TDP-43 proteinopathy, which is characterized by nuclear depletion, cytoplasmic mislocalization, and aggregation. TDP-43 pathology is observed in ~97% of ALS cases and is also reported in a substantial subset of AD cases (commonly ~30%, with variability across cohorts) and in a minority of PD cases, particularly PD with dementia. In this study, we analyze public gene expression data from individuals with AD to derive TDP43 activity score and nucleocytoplasmic transport score. These scores are calculated through carefully correcting batch effects and unknown variations for each gene and ranking their respective sums. Our goal is to validate previously observed differences between AD and ALS TDP-43 scores, extend the analysis to PD, and assess how PD scores compare with ALS. By characterizing cross-disease differences in these scores, this work aims to improve understanding of TDP-43 pathology and support development of blood-based biomarkers of ALS risk and progression.
