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

International Journal of Molecular Sciences

Emily A. Caseley³  Stephen P. Muench³  Sebastien Roger¹  Hong-Ju Mao²  Stephen A. Baldwin³ 

[1] Inserm U1069, University of Tours, Tours 37032, France; E-Mail:;State Key Laboratory of Transducer Technology, Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Science, Shanghai 200050, China; E-Mail:;School of Biomedical Sciences, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK; E-Mails:

关键词: P2RX;    NS-SNP;    loss- or gain-of-function mutation;    disease association;    structure-function relationships;   

DOI  :  10.3390/ijms150813344

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.