Science University Research Symposium (SURS)

Investigating Cell Death Pathways in Pompe Disease

Publication Date

Fall 11-24-2025

College

College of Sciences & Mathematics

Department

Biology, Department of

SURS Faculty Advisor

Felicity Sterling

Presentation Type

Poster Presentation

Abstract

Lysosomes are crucial components of eukaryotic cells that break down damaged or aged organelles, ingested pathogens, and other large molecules. Dysfunctional enzymes within or surrounding lysosomal pathways result in lysosomal storage diseases (LSDs), inherited metabolic disorders that can be fatal due to the accumulation of cellular waste products. These disorders typically result in neurodegeneration. However, the exact mechanism of cell death has yet to be elucidated. Previous work from Niemann Pick Type C Disease, suggests that impaired mitophagy leads to apoptosis through the intrinsic cell death pathway. However, this has yet to be investigated for the other LSDs. We investigated mitophagy in Pompe disease by inducing the disorder with acarbose and utilized immunofluorescent and live cell microscopy to observe changes to mitophagic flux. Our findings suggest that impaired mitophagy may be a common impairment between different LSDs.

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