News Feature | June 11, 2014

Duke University Researchers Gain New Knowledge On Brain Cancer Mutation

By Marcus Johnson

Researchers at Duke University announced that they have found a new gene responsible for brain cancer, and they expect that this gene has strong potential to be used in drug research and development. Researchers at Duke University and neurosurgeons from China were studying the genetic causes of brainstem glioma, which is a rare and potentially fatal brain cancer usually found in children and young adults. These gliomas develop when glial cells in the brainstem become cancerous, which impedes the brainstem’s ability to control important functions in the body’s cardiovascular and respiratory systems, pain sensitivity, and the nerves that are associated with seeing, hearing, walking, and talking.

The gene mutation found by the researchers occurred in the PPM1D gene, which many scientists believe plays an important role in reversing DNA damage in cells. The mutation of the PPM1D gene causes cells to avoid natural cell death and multiply over time. In the past, the PPM1D gene has been linked to both ovarian and breast cancers, however, it has now been shown to aid in the development of brain gliomas (though it has not been found in other brain tumors.) The researchers also found that tumors with mutated PPM1D genes did not have the TP53 mutated gene, which is responsible for the regulation of cell life cycles and the natural suppression of tumors.

Dr. Hai Yan, a professor of pathology at Duke University School of Medicine, who was involved with the research, said that the results of the research will be relevant in drug research. “This finding has immediate clinical applications, because either mutation — PPM1D or TP53 — cause the tumor cells to be resistant to radiation,” Yan said. “Knowing that could spare patients from an ineffective treatment approach.”

The results of the researcher’s findings were published in the journal Nature Genetics.