Dr. Rodrigo Lacruz Receives Funding to Study Tooth Enamel in Genetic Diseases like Down Syndrome

The National Institute of Dental and Craniofacial Research, part of the National Institutes of Health, has awarded funding to researchers at NYU College of Dentistry to study the role of mitochondria, the power plants of cells, in the formation of tooth enamel. The five-year, $2.3 million grant renewal (2R01DE027679-05) builds upon earlier research on mitochondria to focus on how genetic diseases like Down syndrome affect mitochondria and lead to defects in tooth enamel. 

Mitochondria in ameloblasts—cells that secrete proteins to form tooth enamel and calcify the enamel—play an important role in the development of enamel, and defects in mitochondrial DNA cause the abnormal development of enamel. However, how mitochondrial dysfunction might alter this process is poorly understood.

Through this new funding, research led by Rodrigo Lacruz, PhD, MSc, professor of molecular pathobiology at NYU Dentistry, will investigate the interplay between mitochondrial function and enamel formation during environmental insults and determine whether this is altered in patients with genetic disorders that affect mitochondrial function, such as Down syndrome.

The researchers will use mouse models of Down syndrome to explore the stages of enamel development. To address if ameloblasts in the teeth of the mice are more sensitive to fluoride, they will treat the cells with fluoride and analyze mitochondrial function.

“People with Down syndrome often present with enamel defects including hypocalcification and hypoplasia, both caused by developmental defects in enamel formation,” said Lacruz. “The overarching hypothesis of this study is that altered mitochondrial function in ameloblasts of those with Down syndrome alters enamel crystal formation and impacts sensitivity to fluorosis.”