The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy
Open accessAbstract
Background— Mutations in the γ 2 subunit ( PRKAG2 ) of AMP-activated protein kinase produce an unusual human cardiomyopathy characterized by ventricular hypertrophy and electrophysiological abnormalities: Wolff-Parkinson-White syndrome (WPW) and progressive degenerative conduction system disease. Pathological examinations of affected human hearts reveal vacuoles containing amylopectin, a glycogen-related substance. Methods and Results— To elucidate the mechanism by which PRKAG2 mutations produce hypertrophy with electrophysiological abnormalities, we constructed transgenic mice overexpressing the PRKAG2 cDNA with or without a missense N488I human mutation. Transgenic mutant mice showed elevated AMP-activated protein kinase activity, accumulated large amounts of cardiac glycogen (30-fold above normal), developed dramatic left ventricular hypertrophy, and exhibited ventricular preexcitation and sinus node dysfunction. Electrophysiological testing demonstrated alternative atrioventricular conduction pathways consistent with WPW. Cardiac histopathology revealed that the annulus fibrosis, which normally insulates the ventricles from inappropriate excitation by the atria, was disrupted by glycogen-filled myocytes. These anomalous microscopic atrioventricular connections, rather than morphologically distinct bypass tracts, appeared to provide the anatomic substrate for ventricular preexcitation. Conclusions— Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases.
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Cites
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Cited by
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AMPK signalling in health and disease
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Metadata
- Authors
- Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., & Seidman, J. G.
- Venue
- Circulation
- Published
- 2003-06-10
- Volume
- 107
- Issue
- 22
- Pages
- 2850-2856
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2104611938
- Cited by
- 323
- References
- 29
- FWCI
- 13.61
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., & Seidman, J. G. (2003). Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy. Circulation. https://doi.org/10.1161/01.cir.0000075270.13497.2b
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
