Mutated protein causes Parkinson's, protects against MSA

By The Science Advisory Board staff writers

December 5, 2022 -- A single change in the misfolding protein that causes Parkinson's disease can protect against multiple system atrophy (MSA), University of Massachusetts (UMass) Amherst scientists found.

If the protein alpha-synuclein (α-synuclein) is misfolded, it causes neurodegenerative diseases such as Alzheimer's disease, progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), and more. In previous research, the scientists found the α-synuclein mutation, E46K, is not able to fold into the MSA shape, meaning it blocks disease progression. The current research replicates the in vitro findings using mice (PLOS Pathogens, December 1, 2022).

The scientists found that the E46K mutation does block MSA transmission in mice over a 475-day incubation period and mice that expressed the E46K mutation did not develop the disease when inoculated with MSA patient samples. However, mice with the nonmutated E46K α-synuclein developed MSA.

"This lays the groundwork for our gene therapy strategy," Amanda Woerman, PhD, assistant professor of biology in the UMass Amherst College of Natural Sciences, said in a statement. "Our results tell us that a single change in the genome can have a protective effect against MSA."

Further research will continue to explore protein sequences that can protect against neurodegenerative diseases because in this instance while protecting against MSA, the gene mutation causes Parkinson's disease, the researchers said.

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