Science University Research Symposium (SURS)

Investigation of Rapamycin as a Novel Therapeutic for San Filippo​ Syndrome

Publication Date

2026

College

College of Sciences & Mathematics

Department

Biology, Department of

SURS Faculty Advisor

Felicity Sterling

Presentation Type

Oral Presentation

Abstract

Sanfilippo syndrome (MPS III) is one of several lysosomal storage disorders (LSDs). This syndrome is caused by a mutation in one of four genes that ultimately prevents heparan sulfate degradation. This accumulation of metabolic products leads to lysosomal dysfunction and disease, creating a lysosomal storage disorder. Previous research on Niemann Pick Type C (NPC) Disease, another LSD, suggests impaired mitophagy leads to cell death. Additional studies revealed mitophagy is impaired due to overactive mTORC1, which is already a known therapeutic target. Therefore, we are investigating if inhibition of mTORC1 by Rapamycin leads to improved lysosomal function. We hypothesize that if we can inhibit mTORC1 in NPC, we can apply this approach to Sanfilippo syndrome and obtain similar results. We use immunofluorescence to detect and locate mitochondria affected by the disease and to determine whether Rapamycin was successful in restoring lysosomal function.

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