Science University Research Symposium (SURS)

Investigating Cell Death Pathways in San Fillipo Syndrome

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

Sanfilippo syndrome is an autosomal recessive disorder that affects genes in the heparin sulfate catabolic pathway. This leads to a pathological accumulation of heparin sulfate in the lysosome, leading to lysosomal dysfunction. One core lysosomal function ins mitophagy, which is the clearing of dead mitochondrial fragments. Impaired mitophagy can lead to apoptosis and has been seen to be a main contributor to cell death in other lysosomal storage disorders. However, mitophagy has yet to be investigated in Sanfillipo Syndrome. As such, we induced the disorder in COS-7 cells using PugNac and utilized immunofluorescent and live cell microscopy to observe changes to mitochondrial flux. Our findings demonstrate that impaired mitophagy may be a common mechanism of injury in lysosomal storage disorders.

This document is currently not available here.

Share

COinS