MMSET had been known for many years, and had been shown to be mutated in several diseases, but its function had never quite been pinpointed," says lead author Zhenkun Lou, Ph.D., Mayo Clinic pharmacologist and senior author of the study.
The researchers found that normally-functioning MMSET is usually helpful. It plays a restorative role within the genome, recruiting proteins like p53-binding protein 1 to repair breaks that occur in DNA and to maintain genetic stability. But when MMSET malfunctions, the protective pathway falls short, and a cascade of mutations take place that can lead to disease processes.