Functional Characteristics of Four Novel Lone Atrial Fibrillation-Linked Connexin40 Mutants
Year: 2017
Type: article
Abstract: 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.
Author: Mahmoud Noureldin
Language: English
Topic: Connexins and lens biology
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2749494714