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Many genetic mutations have been found to be associated with a person s risk of developing Parkinson s disease. Yet for most of these variants, the mechanism through which they act remains unclear.
Now a new study in
Nature led by a team from the University of Pennsylvania has revealed how two different variations one that increases disease risk and leads to more severe disease in people who develop Parkinson s and another that reduces risk manifest in the body.
The work, led by Dejian Ren, a professor in the School of Arts & Sciences Department of Biology, showed that the variation that raises disease risk, which about 17% of people possess, causes a reduction in function of an ion channel in cellular organelles called lysosomes, also known as cells waste removal and recycling centers. Meanwhile, a different variation that reduces Parkinson s disease risk by about 20% and is present in 7% of the general population enhances the activity of the same ion channel.