Studies Suggest Dental Formations Serve as Disease Indicators

Clues to disease risk possibly could be as simple as a doctor looking inside a patient’s mouth.

This relatively non-invasive method is exactly what Alexandre Vieira is studying at the University of Pittsburgh’s School of Dental Medicine. His research focuses on how dental formations caused by genetic mutations can serve as biomarkers for other anomalies in people.

Vieira, who is the school’s director of clinical research and director of student research, has been finding out if abnormalities in dental development can act as indicators in determining whether or not people are genetically at risk for ailments such as kidney disease, asthma and cancer, among others.

“If we can figure out what people’s risks look like with all this genetic dental information, we might be able to tell you to take up a less stressful job or change your diet to avoid these diseases,” Vieira said. “You can, at some point, personalize the approach that goes from prevention all the way to treatment.”

Vieira’s studies suggest gene mutations that play a part in how your teeth are formed are consistent with diseases people face later in life.

One example is how individuals born with tooth agenesis, the congenital lack of one or more teeth, report more cancer in their families. Brain, breast and prostate cancer appear to be the ones most often occurring in these families.

“Furthermore, some genes that were independently shown to be associated with cancer are also associated with tooth agenesis,” Vieira said. “One important detail, the tooth agenesis cases included in this study are mostly mild and commonly found in the general population.”

The only way people can know if they have mutations in these genes is if they are formally tested. Some common variants in populations can potentially be included in these direct-to-consumer panels for DNA testing, often marketed as “verification of ancestry,” but may provide a report of individual risks to disease as well.

One study from 2004 Vieira cites showed how members of a Finnish family with similar tooth agenesis formations suffered from colon cancer.

“They (researchers) found a mutational gene called AXIN2 in this family,” Vieira said, a gene which, when mutated, has been associated with colorectal cancer.

Vieira has multiple studies published suggesting this association, including one in 2014 and another in 2017 that suggested enamel-forming genes may play a part in dental caries, the decay or crumbling of a tooth that is a common chronic disease in children age 5 to 17 years in the United States.

His studies also suggest that developmental dental anomalies share common genetic contributors to cleft lip and palate.

“We could use a definition of clefts that include the presence or not of dental anomalies to improve our chances to identify gene defects that may explain these conditions, which could improve risk predictions,” Vieira said.

Vieira is also collaborating with researchers at the University of Utah, Cincinnati Children’s Hospital Medical Center, University of Lausanne and Perelman School of Medicine, to identify how genetic mutations influence a protein pathway responsible for permanent tooth formation. The project recently received a $1.7 million grant from the National Institutes of Health.

For the next step in his own research, Vieira wants to see health patterns in individuals over time to see how diseases progress in relation to dental formations. Previous studies on this research have been performed on younger people with tooth agenesis.