Presenter: Jjuuko Nasrah Sharifah

Faculty Sponsor: Eric Owen Williams

School: Fitchburg State University

Research Area: Biology

Session: Poster Session 2, 11:30 AM - 12:15 PM, Auditorium, A67

ABSTRACT

Muscular dystrophy is a group of genetic disorders categorized by muscle atrophy over time. Dysferlinopathy is an extremely rare type of muscular dystrophy that is caused by a loss of function for a protein called dysferlin. Mutant dysferlin gets misfolded in the endoplasmic reticulum and is degraded. Patients with dysferlinopathy are unable to repair their muscle cells from contractions due to the condition, without repairing muscle it loses functionality over time. This interferes with the ability to perform activities of daily living (ADLs) and decreases patients' quality of life. With currently no cures nor treatments to minimize/prevent muscle loss, patients continue to lose autonomy that they once had. Patients typically develop the condition in their late teenage years to early twenties. Due to the rarity of the  condition it is extremely underfunded, underrepresented and under-researched by most pharmaceutical companies. Due to this, our overall project goal is to find FDA approved drugs to accelerate the approval process in order to treat patients quicker. Using FDA approved drugs such as TUDCA, 4PBA and CFTR correctors we are hoping to accelerate the drug discovery process. We are using flow cytometry to quantify how well these drugs restore dysferlin protein to the membrane, and using fluorescence microscopy to visualize the drugs effects.  In addition, we are now using a similar procedure on another version of muscular dystrophy called Sarcoglycanopathy Alpha.