Rare Disease Report

NIH Zeroing in on a Gaucher and Parkinson Treatment?

JULY 18, 2016
Andrew Black
The National Institutes of Health (NIH) has taken a BIG step towards a possible treatment for Gaucher and Parkinson’s disease. Researchers at the NIH have identified and tested a molecule that could one day, be a factor in treating both diseases.
The research of the new molecule was conducted by Ellen Sidransky, MD, a senior investigator with NIH’s National Human Genome Research Institute (NHGRI), and her collaborators at the National Institute of Neurological Disorders and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS). The team of researchers used a labor-intensive technology to develop pluripotent stem cells to help shed some light on the connection between Gaucher disease and Parkinson’s disease.
The stem cells were created from the skin cells of different Gaucher patients with and without Parkinson’s disease.  The stem cells were then allowed to grow into neurons which showed features that were identical to those in people with Gaucher disease. The neurons from the Gaucher patients who also had Parkinson’s disease, showed heightened levels of alpha-synuclein which is the protein that accumulates in the brains of people with Parkinson’s disease and impacts the neurons responsible for controlling movement.
In addition, the researchers screened molecules that would help determine if a drug could be developed that would help Gaucher patients, who have low or mutated forms of the enzyme glucocerebrosidase.  NCATS researchers Juan Marugan, Ph.D., Samarjit Patnaik, Ph.D., Noel Southall, Ph.D., and Wei Zheng, Ph.D., in conjunction with researchers at the University of Kansas, Lawrence, identified a potentially promising molecule, NCGC607, which serves as an chaperone of the mutated protein so that it can still function.
In preclinical studies, the researchers found the NCGC607 molecule to successfully reversed the lipid accumulation seen in Gaucher disease and lowered the amount of alpha-synuclein seen in Gaucher and Parkinson’s disease.
The commonality of two diseases, especially when one is classified as rare and the other is not, can be an outstanding discovery.  When thinking about the concluded research, Daniel Kastner, MD, PhD, NHGRI scientific director and director of the institute’s Division of Intramural Research said “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 disease.”
The next step in moving forward is to test the new molecule to see if it might be developed into an appropriate prototype drug for patients with Gaucher disease and Parkinson’s disease. Currently, the most used treatment for Gaucher is Enzyme Replacement Therapy (ERT). As for Parkinson’s, medications like dopamine promoters, anti-depressants are used to control symptoms of the disease.

Gaucher Disease

Gaucher disease is a rare inherited disorder caused by a deficiency in a particular enzyme. The genetic condition is caused by the inability to make an enzyme, glucocerebrosidase, which breaks down fatty substances in the body. Gaucher disease occurs when GBA1, the gene that codes for the protein glucocerebrosidase, is mutated. This leads to build up of these substances in many tissues of the body, including the bones, organs, and bone marrow. These substances then prevent cells and organs from working properly.
People with even one mutated copy of GBA1 are at higher risk of developing Parkinson’s disease, a common disorder characterized by tremors, muscular rigidity and slowed movements.

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