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• W2102550103 abstract "Abstract Connexin40 (Cx40)-containing gap junction channels are expressed in the atrial myocardium and provide a low resistance passage for rapid impulse propagation. A germline mutation in the GJA5 gene encoding Cx40 resulting in a truncated Cx40 (Q49X) was identified in a large Chinese family with lone atrial fibrillation (AF). This mutation co-segregated with seven AF probands in an autosomal dominant way over generations. To test the hypothesis that this Cx40 mutant affects the distribution and function of atrial gap junctions, we studied the Q49X mutant in gap junction deficient HeLa and N2A cells. The Q49X mutant was typically localized in the cytoplasm and failed to form gap junction plaques at cell-cell interfaces distinct from that of wild type Cx40. When the Q49X mutant was co-expressed with Cx40 or Cx43, the mutant substantially reduced the gap junction plaque formation of Cx40 and Cx43. Electrophysiological studies revealed no electrical coupling of cell pairs expressing the mutant alone and a significant decrease in the coupling conductance when the mutant was co-expressed with Cx40 or Cx43. Further colocalization experiments with the organelle residential proteins indicate that Q49X was retained in the endoplasmic reticulum. These findings provide evidence that the Q49X mutant is capable to impair the gap junction distribution and function of key atrial connexins which may play a role in the predisposition and onset of AF." @default.
• W2102550103 created "2016-06-24" @default.
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• W2102550103 date "2014-01-01" @default.
• W2102550103 modified "2023-09-28" @default.
• W2102550103 title "An endoplasmic reticulum-retained atrial fibrillation-linked connexin40 mutant impairs atrial gap junction channel function" @default.
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• W2102550103 doi "https://doi.org/10.1242/dmm.013813" @default.
• W2102550103 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4007407" @default.
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