Chemical Chaperone Testing in a Muscular Dystrophy Cell Culture Model

Presenter

Srichakrika Gudimella

Campus

Fitchburg State University

Sponsor

Eric Owen Williams, Department of Biology and Chemistry, Fitchburg State University

Schedule

Session 4, 2:30 PM - 3:15 PM [Schedule by Time][Poster Grid for Time/Location]

Location

Poster Board C2, Poster Showcase Room (163), Row 1 (C1-C10) [Poster Location Map]

Abstract

Muscular dystrophy is a widely-encompassing disease resulting in gradual muscle loss and weakening. In particular, dysferlinopathy is a subtype of muscular dystrophy involving the loss of dysferlin, a protein encoded by the DYSF gene. Progressive muscle weakness and degeneration is the consequence of dysferlin deficiency, which inhibits effective membrane repair in muscle fibers. 

Dysferlinopathy is an autosomal trait, affecting males and females. Typically, individuals are diagnosed around the age of 25, when muscle weakness and loss can primarily be observed. Within ten years of the diagnosis, individuals are often wheelchair-bound. 

In this investigation, the effects of the chemical chaperone 2-NOAA on dysferlin expression in a human cell culture model were studied. The goal of this study was to determine if the 2-NOAA drug was successful in restoring dysferlin protein levels in human cells, thus accelerating repair of muscle fibers.

Multiple laboratory techniques were utilized in this project. Using a dysferlin antibody, immunocytochemistry was performed. Additionally, amounts of dysferlin protein were quantified using ImageJ software, and the restoration of dysferlin was evaluated with the use of flow cytometry.

Current treatments manage symptoms of dysferlinopathy, yet are unable to address the underlying causes behind the disease. Understanding the mechanisms behind muscular dystrophy, and developing effective treatments, can prove essential to improving the lives of individuals affected by the disease. This project may thus be critical in resolving many unanswered questions, and make significant contributions to the field of medical research using laboratory and culture techniques.

Keywords

dysferlinopathy, muscular dystrophy, chemical chaperone, DYSF gene

Research Area

Disease Detection, Prevention & Treatment

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