Use of 4PBA and 2NOAA to Treat  Mutations in Dysferlin

Presenter

Cyan Neglawi

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 A28, Campus Center Auditorium, Row 2 (A21-A40) [Poster Location Map]

Abstract

Muscular dystrophy is a rare genetic disease caused by mutations in the dysferlin gene that affects the ability to repair torn muscles. This leads to weakening and reduction of muscle mass and ultimately requires assisted mobility. Although there are no current treatments or cures to muscular dystrophy, there have been several studies and experiments performed to indicate that the drug 4PBA and 2NOAA can be used as possible treatment to aid those who suffer from L1341P mutation of dysferlin, further studies are required. Our goal is to indicate whether these drugs can be used to aid other mutations that cause muscular dystrophy. 

Experiments include myotube differentiation, transfection, and 2NOAA and 4PBA drug testing. Experiments are performed staining various proteins that assist in muscle repair such as calpain and Mg53. The mutations of dysferlin that have been researched include V67D and R555W.

Results of myotube differentiation had shown significant myotube formation in the mutant group of proteins Mg53 and calpain. Undifferentiation showed high calpain protein levels in the wildtype. This can indicate that calpain protein is expressed earlier on in the muscle’s cell cycle. 4PBA’s effect on mutant R555W showed a significant increase in dysferlin. Other mutations, L1341P and V67D indicated an insignificant increase, yet appear to have promising results if further testing was performed. 2NOAA drug treatment appears to have no significant increase in dysferlin, yet also appears to be trending in the right direction and requires further research.

Keywords

Muscular dystrophy , Drug discovery , In vitro testing

Research Area

Biological Organisms

SIMILAR ABSTRACTS (BY KEYWORD)