Restoring Dysferlin Expression in a Cell Culture Model of Muscular Dystrophy

Presenter

Taja Viera

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 C3, Poster Showcase Room (163), Row 1 (C1-C10) [Poster Location Map]

Abstract

Muscular dystrophy is caused by mutations in dysferlin, a protein involved in the repair of skeletal muscle membranes. Mutated dysferlin is unable to efficiently repair muscle cells, resulting in progressive muscle loss. There are limited treatment options available for those with muscular dystrophy, though disease oriented research is underway. 

In this study, the chemical chaperone 2-NOAA was used to restore functional dysferlin in cultured human cells. Mutant dysferlin was transfected into muscle stem cells and treated with chemical chaperones. Immunocytochemistry methods and image J analysis displayed higher dysferlin protein levels in cells treated with 2-NOAA compared to wild type cells. An assay was developed to test dysferlin function. The cells were damaged in the presence of dyes and viewed under a microscope in order to asses membrane repair ability. Flow cytometry data confirmed that dysferlin function was restored. These findings expand our knowledge of Dysferlinopathy. 

Keywords

genetic mutation, treatment, HEK cells, DNA plasmids

Research Area

Disease Detection, Prevention & Treatment

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