Presenter: Kaissy Obeng Kwakye

Faculty Sponsor: Eric Owen Williams

School: Fitchburg State University

Research Area: Biology

Session: Poster Session 2, 11:30 AM - 12:15 PM, Auditorium, A68

ABSTRACT

Dysferlinopathy is a group of rare genetic muscle disorders caused by mutations in the dysferlin(DYSF) gene, which encodes the protein DYSF. These disorders lead to progressive skeletal muscle weakness due to impaired membrane repair. Dysferlin is a transmembrane protein expressed in skeletal and cardiac muscle that plays a critical role in maintaining muscle fiber integrity. When muscle fibers experience mechanical stress, dysferlin facilitates rapid membrane repair, regulates vesicle trafficking to injury sites, and participates in cell signaling pathways that coordinate protective responses.

Mutations in DYSF disrupt its production or function, preventing efficient membrane resealing and allowing cellular damage to accumulate. Our project investigates therapeutic drug candidates aimed at restoring dysferlin expression and improving membrane repair capacity in mutant cells. Using drug treatments—including chemical chaperones such as 4-phenylbutyric acid—we assessed dysferlin levels via flow cytometry and evaluated functional recovery using a membrane repair assay. Muscle precursor cells expressing wild-type or mutant dysferlin were damaged with saponin detergent, and dye uptake was measured to determine repair efficiency.

This research is important because it explores targeted, personalized therapeutic strategies for patients with dysferlinopathy. By identifying compounds that enhance dysferlin folding or function, we aim to prevent muscle degeneration, reduce disease progression, and improve long-term treatment outcomes for individuals affected by DYSF mutations.