Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?

Down syndrome is a well-studied aneuploidy condition in humans, which is associated with various disease phenotypes including cardiovascular, neurological, haematological and immunological disease processes. This review paper aims to discuss the research conducted on gene expression studies during fetal development. A descriptive review was conducted, encompassing all papers published on the PubMed database between September 1960 and September 2022. We found that in amniotic fluid, certain genes such as and were found to be affected, resulting in phenotypical craniofacial changes. Additionally, other genes such as , , , , and were also identified to be affected in the amniotic fluid. In the placenta, dysregulation of genes like , and was observed, which in turn affected nervous system development. In the brain, dysregulation of genes , , , , and has been shown to contribute to intellectual disability. In the cardiac tissues, dysregulated expression of genes , and was found to cause abnormalities. Furthermore, dysregulation of , , , and was observed, contributing to myeloproliferative disorders. Understanding the differential expression of genes provides insights into the genetic consequences of DS. A better understanding of these processes could potentially pave the way for the development of genetic and pharmacological therapies.