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.
Highlights
Adenosine triphosphate (ATP) is best known as an intracellular energy supplier for a wide range of activities inside the cell
Studies over the past decades, mainly using rodent animals, cells and models of diseases, have revealed an important role for P2X receptors in mediating extracellular ATP signalling in a wide range of physiological and pathological processes
The P2RX genes encoding the human P2X receptors are rich in Single nucleotide polymorphisms (SNPs)
Summary
Adenosine triphosphate (ATP) is best known as an intracellular energy supplier for a wide range of activities inside the cell. Mammalian cells express seven genes encoding seven P2X receptor subunits, P2X1–P2X7 [8]. P2X receptors resulting from NS-SNPs have shed light on general and receptor-specific structure-function relationships of these receptors [9] By combining these approaches, studies of disease-associated NS-SNPs have provided novel insights into disease mechanisms (e.g., [14]). In this short review, we will discuss the NS-SNPs in the P2RX genes, focusing on those which are associated with or implicated in various pathologies. We will discuss the consequences of such NS-SNP mutations on receptor function in order to facilitate a better understanding of the disease mechanisms and structure-function relationships of P2X receptors. Non-Synonymous Single Nucleotide Polymorphisms (NS-SNPs) in the P2RX Genes and Disease Association
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