Structure,function and diseases of P2X7 receptors:lessons from single nucleotide polymorphisms

• 作 者: Lin-HuaJiang;
• 机 构: Institute of Membrane and Systems Biology,Faculty of Biological Sciences,University of Leeds,Leeds L
• 出 处: The 3rd Ion Channel Conference: Ion channels-Structure, Func
• 发表日期: 2011年期

　　P2X7 receptors belong to the ionotropic purinergic P2X receptor family for extracellular ATP.The receptor expression is well documented in immune cells, microglial cells in the brain, satellite cells in the peripheral nervous system, bone and epithelial cells, where the receptor serves as the primary mediator for physiological functions, including immune responses, inflammation, cell proliferation, neuron-giia interactions, nociception, bone remodelling, and saliva secretion.Furthermore, accumulating evidence supports that aberrant expression and function of P2X7 receptors have a strong association with numerous diseases, such as rheumatoid arthritis, neurodegeneration, neuroinflammatory disorders and cancers, thus pointing to promising therapeutic potential targeting this receptor.The gene, encoding the P2X7 receptor and particularly the human P2X7 receptor, is rich with single nucleotide polymorphisms (SNPs).I will provide an overview of the recent studies by us and other groups on the mutations introduced by the non-synonymous SNPs and discuss how such efforts can significantly advance our understanding of the structure, function and diseases of the P2X7 receptors.