Drug Screening for Dysferlinopathy

Presenter: Kelly Li

Faculty Sponsor: Eric Owen Williams

School: Fitchburg State University

Research Area: Biology

Session: Poster Session 2, 11:30 AM - 12:15 PM, Auditorium, A63

ABSTRACT

Dysferlinopathy is a rare form of degenerative muscular disease that targets a person’s muscle health, degrades its strength, and leads to muscle atrophy. Dysferlinopathy is also a collective term for many similar diseases that fall into the category of muscle degradation due to the loss of the dysferlin protein, much of which target the lower extremities. In a typical working muscle, when there is damage or tear, the protein dysferlin repairs the damaged muscle. However, in dysferlinopathy, a mutated DYSF gene produces a misfolded dysferlin protein, thereby hindering the healing process and further destroying the muscle. Given its rarity, not much progress has been made towards finding a cure for the disease, leaving suffering adolescents without many concrete solutions. Thus, this project aims to test for plausible drug cures that could increase dysferlin levels in impacted patients and hopefully improve quality of life. Many teenagers and adults who are affected from this disease tend to lose mobility within 5 - 10 years after diagnosis, striking them in their prime. By experimenting and researching these cures, we hope to see positive results that could greatly impact the community, and strengthen faith in the medical industry.

RELATED ABSTRACTS