Inherited disposition to cardiac myxoma development.
Carney complex is a genetic condition in which affected individuals develop benign tumours in various tissues, including the heart. Most individuals with Carney complex have a mutation in the PRKAR1A gene, which encodes the regulatory R1alpha subunit of protein kinase A - a significant component of the cyclic-AMP signalling pathway. Genetically engineered mutant Prkar1a mouse models show an increased propensity to develop tumours, and have established a role for R1alpha in initiating tumour formation and, potentially, in maintaining cell proliferation. Ongoing investigations are exploring the intersection of R1alpha-dependent cell signalling with other gene products such as perinatal myosin, mutation of which can also cause cardiac myxomas.
Wilkes
David
D
Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, 525 East 68th Street, New York, New York 10021, USA.
Charitakis
Konstantinos
K
Basson
Craig T
CT
D000818:Animals; D049109:Cell Proliferation; D000242:Cyclic AMP; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D004700:Endocrine System Diseases; D020022:Genetic Predisposition to Disease; D006338:Heart Neoplasms / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D051379:Mice; D009232:Myxoma / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D011506:Proteins / Q000235:genetics; D015398:Signal Transduction; D012880:Skin Pigmentation; D013577:Syndrome
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; C517835:Prkar1a protein, mouse; D011506:Proteins; D000242:Cyclic AMP; D017868:Cyclic AMP-Dependent Protein Kinases