Authors: Zhimin Zhou, Maolian Gong, Amit Pande, Anca Margineanu, Ulrike Lisewski, Bettina Purfürst, Han Zhu, Lei Liang, Shiqi Jia, Sebastian Froehler, Chun Zeng, Peter Kühnen, Semik Khodaverdi, Winfried Krill, Torsten Röpke, Wei Chen, Klemens Raile, Maike Sander, and Zsuzsanna Izsvák
iScience, 17 June 2024
Scientists use Axion’s Maestro Pro and other methods to investigate a case of permanent neonatal diabetes melitus (PNDM) in a patient carrying a homozygous missense mutation (R397W) in KCNQ1.
KCNQ1/Kv7, a voltage-gated potassium channel, has been implicated in both cardiovascular disease and type 2 diabetes mellitus (T2DM), but the role of KCN1Q in pancreatic islet cells is not clearly understood. In this study, researchers used CRISPR/Cas9-based genome editing to generate islet-like organoids to explore this mechanism. To record KCNQ1-mutant beta cell functional activity and response to glucose in vitro, the scientists used Axion’s noninvasive Maestro Pro multielectrode array (MEA) platform. The MEA results demonstrated that beta cells with impaired Kv7 exhibited increased firing even at low glucose concentrations, suggesting a hyperactive and hypersecretory phenotype. Overall, the authors conclude that their findings provide “a better understanding of the role of KCNQ1 in regulating insulin secretion and b-cell survival in hereditary diabetes pathology.”
