36th Annual Student Research Conference
Mutation of CFTR to Determine the True Open Structure
Audrey J. Heathcote*, Meghan C. Novotny, and Elizabeth Thompson
Dr. Stephen Hudman, Faculty Mentor
Cystic Fibrosis is a debilitating inherited genetic disorder. The most life-threatening symptom is the buildup of mucus in the lungs, leading to chronic inflammation and tissue damage which eventually causes respiratory failure. The long term goal of this project is to determine the true open structure of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), so that mRNA therapies may be implemented. To achieve this, two amino acids are mutated to cysteine so that a disulfide bridge may form, locking the structure into the true open state. These mutation pairs were determined by computational modeling. Three pairs of two mutations to CFTR were established to possibly determine the true open state. The mutations were expressed in Xenopus laevis oocytes, and their conductance was measured against wild-type CFTR using two electrode voltage clamp electrophysiology.
Keywords: Molecular Biology, CFTR, Mutation, Genetics, Physiology
Topic(s):Biology
Presentation Type: Oral Presentation
Session: 108-6
Location: MG 1000
Time: 9:45