UTICA, N.Y. — Researchers at the Masonic Medical Research Institute (MMRI) in Utica will use a nearly $300,000 funding award for a study examining if there is a link between cardiac abnormalities and autism.
The American Heart Association chose MMRI for the Transformational Project Award, per a news release.
Maria Kontaridis, MMRI executive director, and Gordon Moe, professor of biomedical research and translational medicine at MMRI, will be working on the study for the next three years.
Kontaridis and her co-investigator, Gulhan Ercan-Sencicek, an instructor at MMRI, will begin their project on Friday. Titled “The role of PTPN11 mutations in autism and heart pathogenesis,” it seeks to understand how mutations in the same gene differentially affect the normal processes of heart and brain development.
Kontaridis and Ercan-Sencicek will look at disease-causing changes in the PTPN11 gene, a nodal gene involved in critical signaling processes that regulate normal growth and differentiation of cells in multiple tissues, including brain and heart.
“We have identified two novel mutations that we think link autism with heart abnormalities in human patients,” Ercan-Sencicek said. “To understand the role of these mutations, we will reprogram somatic cells obtained from patients with these unique mutations and convert them into inducible pluripotent stem cells (iPSCs), cells that have the ability to differentiate into any tissue type of interest. For this project, we will differentiate these iPSCs into heart muscle cells and brain organoid cells to study the effects of PTPN11 mutations on heart disease and brain development. These results will help us to identify potential novel therapeutics that can be used to treat patients.”