The Carney complex gene PRKAR1A plays an essential role in cardiac development and myxomagenesis.
Cardiac myxomas are the most common primary tumors of the heart, although little is known about their etiology. Mutations of the protein kinase A regulatory subunit gene PRKAR1A cause inherited myxomas in the setting of the Carney complex tumor syndrome, providing a possible window for understanding their pathogenesis. We recently reported that cardiac-specific knockout of this gene causes myxomatous changes in the heart, although the mice die during gestation from cardiac failure. In this review, we discuss these findings and place them in the larger understanding of how protein kinase A dysregulation might affect cardiac function and cause myxomagenesis.
Yin
Zhirong
Z
Department of Molecular Virology, Immunology, and Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.
Kirschner
Lawrence S
LS
D000818:Animals; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D000242:Cyclic AMP / Q000378:metabolism; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006321:Heart / Q000254:growth & development*; D006333:Heart Failure / Q000201:enzymology / Q000235:genetics; D006338:Heart Neoplasms / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D009206:Myocardium / Q000201:enzymology* / Q000473:pathology; D009232:Myxoma / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D015398:Signal Transduction
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517835:Prkar1a protein, mouse; D000242:Cyclic AMP