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The Carney complex gene PRKAR1A plays an essential role in cardiac development and myxomagenesis
Zhirong Yin1, Lawrence S Kirschner
1Department of Molecular Virology, Immunology, and Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.
Abstract:
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.
Insights
Cardiac myxomas, the most common heart tumors, may stem from PRKAR1A gene mutations. Protein kinase A dysregulation is implicated in cardiac myxoma development and pathogenesis.
Area of Science:
- Cardiology
- Oncology
- Molecular Biology
Background:
- Cardiac myxomas are the most common primary cardiac tumors, but their cause is largely unknown.
- Mutations in the PRKAR1A gene are linked to inherited myxomas within Carney complex.
- Previous research showed cardiac-specific PRKAR1A gene knockout induces myxomatous changes but leads to embryonic lethality.
Purpose of the Study:
- To review the role of PRKAR1A gene mutations in cardiac myxoma pathogenesis.
- To explore the impact of protein kinase A dysregulation on cardiac function and myxomagenesis.
Main Methods:
- Review of existing literature on cardiac myxomas, PRKAR1A gene, and Carney complex.
- Discussion of findings from cardiac-specific PRKAR1A knockout mouse models.
Main Results:
- Cardiac-specific knockout of the PRKAR1A gene results in myxomatous changes in the heart.
- These genetic alterations lead to embryonic lethality due to cardiac failure.
Conclusions:
- PRKAR1A gene mutations and subsequent protein kinase A dysregulation are critical factors in cardiac myxoma development.
- Understanding these mechanisms offers insights into the pathogenesis of cardiac tumors.
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