About this Research Topic
Ion channels are specialized membrane proteins responsible for the ions fluxes across the membrane of all cells of the human body. They open in response to voltage changes or binding of a chemical messenger, such as a neurotransmitter (i.e. ligand-gated ion channels). These proteins play heterogeneous and often critical physiological roles in both excitable and non-excitable cells, such as impulse generation and propagation, synaptic transmission and plasticity, hormonal secretion, hearth rhythm, blood pressure regulation, salt-water balance, cell proliferation and survival, to mention a few. As a consequence, it is no surprise that defects in ion channels function may cause diverse and severe diseases collectively known as channelopathies, which include diabetes, epilepsy, autism, migraine, ataxia, neuromuscular, psychiatric, neurodegenerative, renal, lung and cardiovascular diseases. These maladies may be either congenital (often resulting from mutations in the encoding genes) or acquired (as those originating from autoimmune attacks). More recently, altered expression of otherwise functionally unaltered ion channels have been recognized and named transcriptional channelopathies. To date, many different genetic defects have been found. Overexpression or underexpression of the protein can be caused by mutation either in the promoter or coding region of the channel gene, resulting in gain- or loss-of-function. Some other channelopathies may result from defective regulations of channel activity due to mutations occurring in the voltage-sensor module of voltage-gated channels or the extracellular or intracellular binding sites for ligands or proteins that modulate their properties. Thus, the hetiopathogenesis of a single channelopathy may be genetically heterogeneous, as it can result from mutations in several different genes (e.g. LQT syndrome). Conversely, different mutations in the same gene can produce distinct disease phenotypes (e.g. ataxia and migraine).
In this Research Topic, we will assemble a series of reviews or original articles to provide the most updated platform of knowledge on channelopathies, at clinical, genetic and physiological levels. This will pave the way for new advances in the field and greatly benefit management and therapeutic approaches for these devastating human illnesses. Moreover, it will serve as a comprehensive and accurate catalog of channelopathies, and provide a valuable overview for students, researches and medical practitioners alike.
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