2023 Seed Grant
Eirene Markenscoff-Papadimitriou, Ph.D.
Cornell University
Carl and Marilyn Thoma Foundation Seed Grant
Autism affects more than 2% of 8-year-olds in the United States, and we do not understand what the causes are. Many individuals with autism have a mutation in their DNA that affects a gene called SUV420H1. This gene controls how DNA is packaged within the nucleus of the cell. However, this gene’s function in packaging DNA in the neurons that make up the brain has not been well understood. Here, Dr. Markenscoff-Papadimitriou’s lab proposes to study the function of SUV420H1 mutations during brain development using mouse models that contain mutations in the mouse SUV420H1 gene. They hypothesize that SUV420H1 controls the packaging of DNA containing genes that are important for neurons to communicate with each other. And plan to investigate whether the brains of mice containing mutations in SUV420H1 have defects in the packaging of these genes and whether these defects result in defects in neuronal connectivity. One outcome of the proposed research will be increased understanding of the mechanisms by which autism-linked mutations affect brain development. This mechanistic research is critical not just for illuminating the causes of autism in individuals with SUV420H1 mutations, but can also be expanded to other genes linked to autism. For example, other genes involved in packaging DNA in the nucleus have been linked to autism, and our research can potentially discover mechanisms that misfunction during development as a result of mutations in those genes as well.
