Science University Research Symposium (SURS)

Observations of Mitochondrial Morphology 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 or mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage condition that ultimately leads to neurodegeneration due to a pathological accumulation of heparan sulfate (HS) in the lysosome. This leads to lysosomal dysfunction. One core lysosomal function is mitophagy. Impaired mitophagy has been shown to lead to apoptotic cell death, and it hypothesized to be the cause of neurodegeneration in other lysosomal storage disorders. Therefore, we investigated if mitophagy and mitochondrial activity were impaired in Sanfillipo in a manner similar to other lysosomal storage disorders. Mitochondrial movement and flux were severely impaired in Sanfillipo syndrome in comparison to wild type controls. This suggests that mitochondrial activity may be a shared therapeutic target in lysosomal storage disorders.

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