These authors should be regarded as co-first authors.
Overexpression of G100S mutation in PRKAG2 causes Wolff–Parkinson–White syndrome in zebrafish
Article first published online: 25 OCT 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 3, pages 287–291, September 2014
How to Cite
Zhang, B.L., Ye, Z., Xu, R.L., You, X.H., Qin, Y.W., Wu, H., Cao, J., Zhang, J.L., Zheng, X. and Zhao, X.X. (2014), Overexpression of G100S mutation in PRKAG2 causes Wolff–Parkinson–White syndrome in zebrafish. Clinical Genetics, 86: 287–291. doi: 10.1111/cge.12267
Nothing to declare.
- Issue published online: 20 AUG 2014
- Article first published online: 25 OCT 2013
- Accepted manuscript online: 30 AUG 2013 10:40AM EST
- Manuscript Revised: 28 AUG 2013
- Manuscript Accepted: 28 AUG 2013
- Manuscript Received: 16 APR 2013
- National Natural Science Foundation. Grant Number: 81000038
- PRKAG2 cardiac;
The Wolff–Parkinson–White (WPW) syndrome was believed to be associated with PRKAG2 gene mutations. In this study, we verified the pathopoiesis of G100S mutation, a novel mutation only discovered in Chinese patients with WPW, in cardiac disorder. Similar to R302Q, when overexpressed PRKAG2 G100S mutant in zebrafish, we observed a thicker heart wall, detected a decreased AMPK enzymatic activity by tissue AMPK kinase activity colorimetric technique, as well as examined an increased glycogen storage in heart wall using the method for periodic acid-Schiff staining, in comparison with the zebrafish without exogenous PRKAG2 (mock) or with wild-type PRKAG2 (WT). Taken together, we concluded PRKAG2 G100S mutation might contribute to impair the AMP-activated protein kinase function, which resulted in increased cardiac glycogen storage, serving as a pathogenesis for WPW syndrome in Chinese.