16 Ion Channel Problems
<p>From: <strong>Four studies, 23 polymorphisms, and one chart <a id="null" class="null" href="https://paolomaccallini.wordpress.com/2018/05/15/australian-genes/">https://paolomaccallini.wordpress.com/2018/05/15/australian-genes/</a></strong></p>
<p><strong>TRPM3 ionic channels</strong></p>
<p>Griffith University has published two studies arguing for a connection between ME/CFS and impaired transient receptor potential melastatin 3 (TRPM3) calcium channels. After demonstrating a significant reduction in TRPM3 cell surface expression in NK in patients, compared to healthy controls (<a href="https://www.ncbi.nlm.nih.gov/pubmed/27245705">Nguyen T et al. 2016</a>), researchers have proved this abnormality to impact calcium influx in NK and postulated this mechanism as the very cause of the <a href="https://paolomaccallini.wordpress.com/2016/11/11/cellule-nk-nella-mecfs/">reduced NK cytotoxicity</a>observed in numerous studies. Being TRPM3 expressed in many tissues (sensory neurons, kidneys, brain, hypophysis, pancreas: see figure), researchers have suggested its malfunction to be the physiological basis of ME/CFS (<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217865/">Nguyen T et al. 2016</a>). In addition, given previous data (by the same research team) regarding the statistic association between ME/CFS and TRPM3 polymorphisms (<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105265/">Johnston S, Staines D et al. 2016</a>), (<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821384/">Marshall-Gradisnik S, Huth T et al. 2016</a>), (<a href="https://www.ncbi.nlm.nih.gov/pubmed/27834303">Marshall-Gradisnik S, Johnston S et al. 2016</a>), the authors have suggested this dysfunction to be possibly due to a genetic predisposition. Looking at our three patients, each one of them is a carrier for at least one genetic variant of TRPM3 associated with ME/CFS. Particularly, genotype CT in rs1328153 position is present in all of them.</p>