Grant Supports Study of Gene Mutation That Impedes Normal Tooth Formation

The National Institutes of Health (NIH) has awarded a $1.7 million grant to scientists at the University of Utah Health to build on their work to identify how the mutated PAX9 gene influences the WNT pathway, a family of proteins that passes signals within the cells responsible for normal tooth development. Rena D’Souza, DDS, PhD, professor of dentistry at the University of Utah Health, will lead the team as they examine the relationship between PAX9 and WNT. The findings could lead to new therapies that reestablish the normal interaction and help restore tooth development.

“We believe the mutated PAX9 gene leads to dysfunction in the WNT10A pathway, causing a cascade of imbalances that prevent teeth from forming,” notes D’Souza. In their efforts to prove this theory, the team will collaborate with researchers from the Cincinnati Children’s Hospital Medical Center, University of Lausanne, University of Pittsburgh and the Perelman School of Medicine.