A study on the regulatory mechanism of DSCR1 expression

Abstract

Common features or prominent complications of Down Syndrome (DS) patients who have part of chromosome 21 as trisome made researchers interested in studying the DS related proteins. DSCR1 (Down Syndrome Critical Region 1) was found as the one of the critical proteins which markedly affects DS patient’s abnormality. A number of studies have been carried out to reveal the cellular functions of DSCR1, focusing on its duality of functions (beneficial or detrimental) in diverse conditions when this protein is either up-regulated or down-regulated. Although there have been some efforts in the past to interrogate the regulatory mechanisms of DSCR1 expression, our overall understanding of this mechanism remains fragmentary. In this study, we aimed to understand the regulatory mechanisms of DSCR1 expression, which might be utilized to develop therapeutic strategies for various disease conditions including leukemia, heart defects, and Alzheimer’s diseases. Here, we found that RALY isoform 2 protein may play a potential role in the regulation of DSCR1 expression as a suppressor in the endothelial cell. This study definitely requires further research for better understanding of detailed regulatory mechanisms and molecular players implicated in this process. However, our data still provides insight into potential strategy of DSCR1 regulation for gene therapy for DS.