Drug Discovery for a Rare Form of Muscular Dystrophy

Presenter

Stephanie Pelletier

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 C4, Poster Showcase Room (163), Row 1 (C1-C10) [Poster Location Map]

Abstract

Muscular Dystrophy is a disease that causes progressive muscle weakness. People who have this disease have a mutation that causes the loss of dysferlin. Dysferlin is activated when calcium is added so the dysferlin can repair the membrane break within the muscle cell and if dysferlin is blocked, calcium will not be able to activate dysferlin to repair the membrane break which muscle needs to repair the muscle cell. During Fall 2023 I had the pleasure of starting my research with Dr. Williams to design membrane repair assays and to be able to analyze MIT’s data to determine if DYSF mutation affect the psoas part of the mouse and to test these two drugs; 4-PBA and 2-NOAA. The results from Fall 2023 we found that 4-PBA works best to restore the function of the G426V DYSF mutation and the 2-NOAA there were no remarkable results. During Spring we are digging deeper into 2-NOAA because there’s not a lot of research with this drug and we want to learn more about it. This research is important because I am trying to develop membrane repair assays to find out more clues if 4-PBA or 2-NOAA can help people with Muscular Dystrophy.  

Keywords

Muscular Dystrophy, Drugs, Disease

Research Area

Disease Detection, Prevention & Treatment

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