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Dental Researchers Are First to Map Destructive Gene Dental Researchers Are First to Map Destructive Gene

February 2005

by Natalie Gutierrez

Dental researchers at the Health Science Center are the first in the world to successfully map the gene that causes dentinogenesis imperfecta (DGI) Type III, a disease that affects tooth density and color and over time can cause teeth to wear to the gum line.

Mary MacDougall, Ph.D., and her team of researchers have identified a rare compound mutation in the dentin sialophosphoprotein (DSPP) gene in a family with DGI-III. Their findings are published in the February 2005 issue of the American Journal of Medical Genetics. Her team includes Juan Dong, M.D., Ph.D., Ting-Ting Gu, M.D., and Leticia Gutierrez Jeffords, D.D.S.

DGI-III is one of the most prevalent dental genetic diseases. Although it is more prevalent in some parts of the country, throughout the entire United States all types of DGI have an estimated incidence between 1-to-6,000 and 1-to-8,000. By identifying the underlying cause of this disease, researchers can develop strategies for novel clinical treatments using gene therapy.

In labs at the Health Science Center, researchers cloned and characterized the DSPP gene, determined its structure and identified the alteration in a DGI-III-affected family. They are currently working on gene therapy that can be administered to patients with the disease.

Effective gene therapy would allow researchers to transport the corrected gene into the developing teeth and replace the nonfunctional gene, thus eliminating the problem.

Health Science Center researchers have been contacted by researchers from throughout the country and from Australia and Europe who are treating patients with this disease and diseases that similarly alter tooth structure and number. The National Institute of Dental and Craniofacial Research of the National Institutes of Health funded the project for nearly $1 million.

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