Mentor
Lori Wallrath
Participation year
2019
Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare type of muscular dystrophy caused by mutations in the human LMNA gene. The LMNA gene encodes lamins, filamentous proteins that line the inside of the nuclear envelope. To understand the molecular basis of the disease, fruit fly models were made. These models have mutations in the fruit fly Lamin C gene that correspond to disease-causing mutations in the human LMNA gene. The fruit flies develop muscular dystrophy and have reduced motility and viability. Prior studies showed that the fruit fly muscles expressing mutant Lamin C had destabilized microtubules and altered redox status. The goal of my project was to determine if paclitaxel, a drug that stabilizes microtubules, and pamoic acid, a compound that inhibits malic enzyme that is predicted to promote redox homeostasis, suppress the muscle defects. The results showed that treatment of fruit fly larvae expressing wild-type Lamin C … (work in progress). Knowledge of effective pharmacological treatments could potentially provide new avenues for therapy.

Misty Perez
Education
Whittier College