Abnormalities in Cells with Muscular Dystrophy

Presenter

Melanie Mejia

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 C13, Poster Showcase Room (163), Row 2 (C11-C20) [Poster Location Map]

Abstract

              Muscular Dystrophy is a genetic disease that causes gradual loss of muscle mass. Mutations can occur which causes a loss of Dysferlin. The gene Dysferlin helps aid and repair breaks in the sarcolemma of skeletal muscle fibers. Due to the mutations, Dysferlin becomes bulkier and gets stuck in the Endoplasmic Reticulum unable to be transported to the site of the break. This causes a loss of the Dysferlin protein. Myoblasts also containing mutated Dysferlin also tend to differentiate at a faster rate compared to normal cells. The differentiation is enabled by MyoD and Myf5 antibodies which occur at a faster pace. During the Fall 2023 semester, I was able to start my research with Dr. Williams to test two drugs, 4-PBA, and 2-NOAA, characterize the differentiation abnormalities, and analyze MIT’s data to determine if the Tibialis Anterior was affected by the Dyferlin mutation. We found that the drug 4-PBA works best to restore Dysferlin localization in the L1341P mutation but there were no significant results for 2-NOAA. In this semester, I am trying to do more experiments with 2-NOAA and see if it can help restore the function of Dysferlin in mutated cells to help treat people with Muscular Dystrophy. In addition, we will optimize the differentiation assay of myoblast in order to identify the abnormalities in mutated cells and analyze their genetic markers. 

Keywords

Abnormalities , Differentiation , Muscular Dystrophy , Mutations , Restore

Research Area

Disease Detection, Prevention & Treatment

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