Master of Science
Physiology and Pharmacology
Dr. Bai Donglin
Atrial fibrillation (AF) is the most common form of cardiac arrhythmia. Recently, four novel heterozygous Cx40 mutations, K107R, L223M, Q236H, and I257L were identified in 4 of 310 unrelated AF patients. To study possible alterations associated with these mutants, we studied their localization and function using gap junction (GJ)-deficient model cells. Cell pairs expressing Q236H alone or together with wildtype Cx43 showed a significantly lower coupling conductance. Impaired GJ function and dominant negative action on Cx43 of this mutant are consistent with previous findings on the majority of AF-linked Cx40 mutants. The remaining three novel AF-linked mutants did not show any apparent defects in our tested GJ or hemichannel assays, which may reflect the limitations of our experimental system.
Noureldin, Mahmoud, "Functional Characteristics of Four Novel Lone Atrial Fibrillation-Linked Connexin40 Mutants" (2017). Electronic Thesis and Dissertation Repository. 4735.