Northwestern Medicine scientists have discovered a new cause of Parkinson’s disease – mutations in a gene called TMEM230. This appears to be only the third gene definitively linked to confirmed cases of Parkinson’s disease.
In a study published in Nature Genetics, the scientists provided evidence of TMEM230 mutations in patients with Parkinson’s disease from both North America and Asia. They also demonstrated that the gene is responsible for producing a protein involved in packaging the neurotransmitter dopamine in neurons. Loss of dopamine-producing neurons is a defining characteristic of Parkinson’s disease.
Taken together, the study’s findings provide new clues to explain how Parkinson’s disease develops in the brain. Those clues may inform future therapies for the disorder, which currently has no cure and few known causes.
“Previous research has associated Parkinson’s disease with various factors in the environment, but the only direct causes that are known are genetic,” said principal investigator Teepu Siddique, MD, the Les Turner ALS Foundation/Herbert C. Wenske Foundation Professor of Neurology and of Cell and Molecular Biology. “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.”
About 15 percent of Parkinson’s disease cases are thought to be caused by genetics, such as mutations in two genes called SNCA and LRRK2. Siddique said that other genes have only been associated with features of parkinsonism, a general term for neurological disorders with motor symptoms.
The Northwestern Medicine team’s proof that mutations in TMEM230 lead to Parkinson’s disease is the result of 20 years of research conducted with collaborators around the world.
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