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Int. J. Mol. Sci. 2014, 15(8), 13344-13371; doi:10.3390/ijms150813344

Non-Synonymous Single Nucleotide Polymorphisms in the P2X Receptor Genes: Association with Diseases, Impact on Receptor Functions and Potential Use as Diagnosis Biomarkers

1
School of Biomedical Sciences, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK
2
Inserm U1069, University of Tours, Tours 37032, France
3
State Key Laboratory of Transducer Technology, Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Science, Shanghai 200050, China
4
Department of Physiology and Neurobiology, Xinxiang Medical University, Xinxiang 453003, China
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 6 June 2014 / Revised: 10 July 2014 / Accepted: 14 July 2014 / Published: 30 July 2014
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
View Full-Text   |   Download PDF [4881 KB, uploaded 30 July 2014]   |  

Abstract

P2X receptors are Ca2+-permeable cationic channels in the cell membranes, where they play an important role in mediating a diversity of physiological and pathophysiological functions of extracellular ATP. Mammalian cells express seven P2X receptor genes. Single nucleotide polymorphisms (SNPs) are widespread in the P2RX genes encoding the human P2X receptors, particularly the human P2X7 receptor. This article will provide an overview of the non-synonymous SNPs (NS-SNPs) that have been associated with or implicated in altering the susceptibility to pathologies or disease conditions, and discuss the consequences of the mutations resulting from such NS-SNPs on the receptor functions. Disease-associated NS-SNPs in the P2RX genes have been valuable in understanding the disease etiology and the receptor function, and are promising as biomarkers to be used for the diagnosis and development of stratified therapeutics. View Full-Text
Keywords: P2RX; NS-SNP; loss- or gain-of-function mutation; disease association; structure-function relationships P2RX; NS-SNP; loss- or gain-of-function mutation; disease association; structure-function relationships
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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MDPI and ACS Style

Caseley, E.A.; Muench, S.P.; Roger, S.; Mao, H.-J.; Baldwin, S.A.; Jiang, L.-H. Non-Synonymous Single Nucleotide Polymorphisms in the P2X Receptor Genes: Association with Diseases, Impact on Receptor Functions and Potential Use as Diagnosis Biomarkers. Int. J. Mol. Sci. 2014, 15, 13344-13371.

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