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J. Cardiovasc. Dev. Dis. 2018, 5(1), 7; doi:https://doi.org/10.3390/jcdd5010007

Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System

Department of Pharmacological and Pharmaceutical Sciences, University of Houston College of Pharmacy, Texas Medical Center, Houston, TX 77204, USA
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Received: 5 January 2018 / Revised: 23 January 2018 / Accepted: 24 January 2018 / Published: 25 January 2018
(This article belongs to the Special Issue Cyclic Nucleotide Signaling and the Cardiovascular System)
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Abstract

A-kinase anchoring proteins (AKAPs) belong to a family of scaffolding proteins that bind to protein kinase A (PKA) by definition and a variety of crucial proteins, including kinases, phosphatases, and phosphodiesterases. By scaffolding these proteins together, AKAPs build a “signalosome” at specific subcellular locations and compartmentalize PKA signaling. Thus, AKAPs are important for signal transduction after upstream activation of receptors ensuring accuracy and precision of intracellular PKA-dependent signaling pathways. Since their discovery in the 1980s, AKAPs have been studied extensively in the heart and have been proven essential in mediating cyclic adenosine monophosphate (cAMP)-PKA signaling. Although expression of AKAPs in the heart is very low, cardiac-specific knock-outs of several AKAPs have a noteworthy cardiac phenotype. Moreover, single nucleotide polymorphisms and genetic mutations in crucial cardiac proteins play a substantial role in the pathophysiology of cardiovascular diseases (CVDs). Despite the significant role of AKAPs in the cardiovascular system, a limited amount of research has focused on the role of genetic polymorphisms and/or mutations in AKAPs in increasing the risk of CVDs. This review attempts to overview the available literature on the polymorphisms/mutations in AKAPs and their effects on human health with a special focus on CVDs. View Full-Text
Keywords: A-kinase anchoring proteins; single nucleotide polymorphisms; genetic mutations; cardiovascular diseases; protein kinase A A-kinase anchoring proteins; single nucleotide polymorphisms; genetic mutations; cardiovascular diseases; protein kinase A
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Suryavanshi, S.V.; Jadhav, S.M.; McConnell, B.K. Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System. J. Cardiovasc. Dev. Dis. 2018, 5, 7.

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