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URMC / Research / Research@URMC / October 2014 / Researchers Pinpoint Gene Central to Brain Degeneration

Researchers Pinpoint Gene Central to Brain Degeneration

cellsRochester scientists believe they’ve found a gene that might have the potential to protect the brain from diseases such as Parkinson’s and Huntington’s, and filed a patent to protect the technology.

Wei Hsu, Ph.D., of the URMC Department of Biomedical Genetics, reports in the journal PLOS Genetics the discovery of a key regulator of Small Ubiquitin-related Modifier (SUMO) proteins. Patients with neurological disorders have abnormally high levels of SUMO proteins in their brains. Hsu’s lab investigated how SUMO becomes imbalanced and what factors control its regulation in mice.

The data strongly suggests that the gene, SENP2 (SUMO-specific protease 2) is an essential enzyme in the pathway between SUMO and neural degeneration. They also found that SENP2 acts within the cell’s energy source, or mitochondria. This was important because defects in the mitochondria are believed to disrupt the carefully coordinated process of cell self-destruction.

By blocking SENP2 in mice, researchers proved that the deficiency causes cell-survival problems that lead to the development of brain degeneration.

The involvement in SENP2 opens new opportunities to find drugs that target the SUMO pathway, Hsu said. Theoretically, giving a drug that’s based on a form of the SENP2 protein could protect brain cells.

The Hsu lab is also conducting preclinical studies on whether the SENP2 gene might help to control the destruction of brain tumor cells. To read the full study, click here.

Leslie Orr | 10/9/2014

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