Researchers Discover a New Gene That Causes Parkinson’s Disease

Although Parkinson’s disease has no cure, researchers have discovered a new gene definitively linked to confirmed cases of the nervous system disorder. The findings were the result of 20 years of research and represent just the third known gene linked to the disease.

Parkinson’s results from nerve cell damage in the brain that causes dopamine levels to drop. The disorder often starts with a tremor in one hand, and while there is no cure yet, medications can help control the symptoms of Parkinson’s.

Mutations in the gene TMEM230 provide new clues about how the disease develops and could help researchers find additional therapies to treat and maybe one day cure Parkinson’s disease. Researchers at Northwestern Medicine published their findings in Nature Genetics.

“This particular gene causing Parkinson’s disease is not just limited to one population in North America,” principal investigator Teepu Siddique, MD, the Les Turner ALS Foundation/Herbert C. Wenske Foundation Professor of Neurology and of Cell and Molecular Biology, said in a statement. “It’s worldwide, found in very different ethnic and environmental conditions. These mutations are that strong.”

According to the findings, TMEM230 is produces a protein involved with packaging dopamine. The protein is also thought to be involved in the movement of synaptic vesicles that then release dopamine to cells that project into parts of the brain.

The study’s first author, Han-Xiang Deng, MD, PhD, research professor of neurology, explained that these findings suggest one strategy for future development of therapies to treat Parkinson’s could focus on normalizing the synaptic vesical trafficking.

Only 15% of Parkinson’s disease cases are thought to be caused by genetics. The other genes known to be associated with the disease are SNCA and LRRK2.

“Previous research has associated Parkinson’s disease with various factors in the environment, but the only direct causes that are known are genetic,” Dr. Siddique said. “Many genes have been claimed to cause Parkinson’s disease, but they haven’t been validated. We show that mutations in this new gene lead to pathologically and clinically proven cases of the disease.”