Tufts University biologists, and colleagues, have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to preventive measures and treatments, not only for ATS, but also for a host of other disorders, from birth defects to cancer. The discovery was published online on February 10, 2016, in the Journal of Physiology. The open-access article is titled “Bioelectric Signaling Via Potassium Channels: A Mechanism for Craniofacial Dysmorphogenesis in KCNJ2-Associated Andersen-Tawil Syndrome.” Lead author Ms. Dany Spencer Adams, Ph.D., a Research Associate Professor in the Department of Biology in the Tufts School of Arts and Sciences, together with colleagues at Tufts, MIT, and RMIT University (Australia) used an embryonic frog model to demonstrate, for the first time, that faulty bioelectric signaling is responsible for the craniofacial defects that characterize ATS -- a broad forehead and nose, wide-set eyes, low-set ears, and a small jaw and small chin. Patients with ATS have a mutation in the gene that codes for the potassium ion channel protein Kir2.1, a crucial piece of cell machinery that maintains cells' electrical charge by regulating the flow of positively charged potassium ions into and out of cells. If the Kir2.1 channel malfunctions, it affects how facial features develop in the embryo, among other effects. Cardiac arrhythmias and muscle disorders also associated with ATS had previously been linked to electrophysiology, but the craniofacial deformities had been unexplained. The new findings, Dr.
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