MMRI researchers to use AHA funding for autism study

UTICA, N.Y. — Researchers at the Masonic Medical Research Institute (MMRI) in Utica are beginning a study examining if there is a link between cardiac abnormalities and autism. 

The American Heart Association (AHA) chose MMRI for the nearly $300,000 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. 

“It’s our honor to award this grant to Dr. Kontaridis,” Steve Gassner, chair of the board of directors of the AHA in the Mohawk Valley, said. “We know that 1 in 100 children is born with a heart defect, and some of those children have been our Red Cap Ambassadors. Like heart disease, autism affects the whole family. We look forward to hearing from Drs. Kontaridis and Ercan-Sencicek in the coming years as progress continues on this exciting and ground-breaking work.”

Kontaridis and her co-investigator, Gulhan Ercan-Sencicek, an instructor at MMRI, began their project on Jan.1. 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. 

“We think there are genes that have dual functionality in development, the abnormal regulation of which can cause neurocognitive and cardiac anomalies,” Kontaridis said. “Genes regulate signaling relays within a cell that tell that cell what to do, whether it be to grow, divide, or die. Here, we are looking at the effects of a specific gene, which, when mutated, alters the relay process, thereby leading to the development of growth defects, autism, and cardiac abnormalities.” 

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.”