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!
Abstract
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.