Scientists from the National Institutes of Health (NIH) have used high-throughput drug screening to zero in on a molecule that could help a mutant gene function, making headway toward a possible treatment for the rare Gaucher disease and the more common Parkinson’s disease.
Gaucher disease affects between 1 in 50,000 and 1 in 100,000 people in the general population but is more common among those of Eastern and Central European Jewish heritage. It occurs when a person inherits two mutated copies of the gene GBA1. When this gene is mutated cells can’t remove of fats, or lipids, which then accumulate and cause enlarged spleens, easy brushing and bleeding, fragile bones, and even neurological diseases. The risk for Parkinson’s increases even when a person inherits only one mutated copy of GBA1.
Researchers created neurons from induced pluripotent stem cells using skin cells of Gaucher patients both with and without Parkinson’s disease. Neurons in those patients who had Parkinson’s disease had higher levels of the protein alpha-synuclein, which accumulates in the brains of Parkinson’ patients, affecting movement.
After assessing hundreds of thousands of potential molecules, scientists at the National Center for Advancing Translational Sciences (NCATS) Chemical Genomics Center identified molecule NCGC607. The molecule assists the mutated protein so that it can still remove waste. According to a press release, researchers found that in the stem-cell derived neurons, the molecule decreased the levels of alpha-synuclein and reversed the fat accumulation providing a potential therapeutic target.
“This research constitutes a major advance,” Danile Kastner, M.D., Ph.D. National Human Genome Research Institute (NHGRI) scientific director, said in a prepared statement. “It demonstrates how insights from a rare disorder such as Gaucher disease can have direct relevance to the treatment of common disorders like Parkinson’s.”
Ellen Sidransky, M.D., a senior investigator at the NHGRI, said that it is exciting to find a molecule that could potentially be widely available and be able to reach neurons that are affected by both Parkinson’s and severe forms of Gaucher disease. However, she cautioned that identifying the molecule is a long way off from having an approved drug.
Researchers from the National Institute of Neurological Disorders and Stroke, and the University of Kansas, Lawrence, contributed to this work.
https://www.biosciencetechnology.com/news/2016/07/researchers-identify-molecule-could-provide-target-parkinsons-treatment
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