An international team of researchers has discovered a mutation in a gene that results in a condition called anhydrosis. This condition is at the other end of the ‘sweating spectrum', that is, an inability to sweat which can result in hyperthermia or heatstroke. Although hyperhidrosis is a bothersome and distressing problem, anhydrosis is a potentially lethal condition due to the body’s inability to cool down or self-regulate internal temperature increases.
The researchers came across a family with several members having this disorder. Although their sweat glands appeared normal from an anatomical or structural perspective, their ability to function properly was problematic. After performing an analysis of their genome, the researchers noticed an anomaly in a gene called ITPR2. This gene is responsible for coding or the production of a so-called ‘channel protein’. These proteins are responsible for the flow of ions (e.g. calcium, potassium, sodium) across membranes - those of cells or organelles within cells. These are ‘smart’ proteins and only allow specific amounts of ions to enter and leave cells. This flow of ions often triggers a cascade of cellular reactions resulting in a specific outcome. In this case, the production of sweat. An alteration in the gene that codes for this protein will result in faulty cellular channels and a sweating disorder such as anhydrosis. A better understanding of how this mutation arises could eventually help treat or prevent this condition.