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.
Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, 525 East 68th Street, New York, New York 10021, USA.
David
D
Wilkes
Konstantinos
K
Charitakis
Craig T
CT
Basson
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