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PLOS Science Wednesday: Hi Reddit, I’m Professor Damien Keating and I discovered gene RCAN1 is linked to blood sugar problems in both Type 2 Diabetes and Down Syndrome – Ask Me Anything!
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Hi Reddit, My name is Professor Damien Keating and I am a cell physiologist at Flinders University in the School of Medicine. My research focuses on understanding how cells release chemical signals to each other and how this relates to certain diseases such as diabetes. I recently published a paper titled A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes in PLOS Genetics. In this study we wanted to identify what might drive pancreatic beta cell dysfunction and reduced plasma insulin in type 2 diabetes (T2D). If those beta cell changes don’t happen people don’t develop T2D. We tackled this in a different way by looking at diabetes in Down syndrome (where chromosome 21 is triplicated), as beta cells in individuals with Down syndrome show the same defects observed in T2D beta cells. Using a screening approach combining Down syndrome mouse models and human T2D beta cells, we arrived at a single lead candidate, RCAN1. We then provided functional evidence that increased RCAN1 expression causes defects in beta cell mitochondrial function and insulin release that are observed in T2D beta cells. We hope this will provide a platform to examine whether affecting RCAN1 function or expression could have positive influences in T2D. I look forward to chatting with you all on this topic from Australia. I will be answering your questions at 1pm ET – Ask Me Anything! Don’t forget to follow me on Twitter @dj_keating.