Earlier this week I met with Dr. Terry Elton, a researcher at The Ohio State University who is studying the role of microRNA’s (single-stranded RNA molecules which regulate gene expression) in the development of congenital heart defects in individuals with Down syndrome. Elton’s work is fascinating, and a research paper of his initial findings can be found here.
According to Elton, there are five microRNAs present on chromosome 21, and all are found to be overexpressed in individuals with DS. The overexpression of these five microRNAs results in the underexpression of specific target proteins. Elton believes this imbalance acts as a turn-key in the development of DS-related health conditions, particularly congenital heart defects. He hypothesizes that if you can regulate the overexpression of microRNAs and the underexpression of the target proteins, you can prevent the development of the attendant health conditions.
However preliminary, Elton’s work is exciting. There’s much that can be learned from the timing and regulation of these target proteins, especially in the development of septal defects and other heart conditions so common in people with DS.
Anyone interested in DS research should keep Elton’s work on their radar.
