Researchers find connection between Gaucher, Parkinson’s diseases may lead to cure

Researchers at the National Institutes of Health have discovered a molecule that may hold the cure for both Gaucher and Parkinson’s diseases.

Gaucher disease, a rare condition that causes enlargement of the spleen, frequent bleeding and bruising and neurological disease, affects 1 in 50,000 to 100,000 people. Parkinson’s affects 1.5-2 percent of people over age 60, or roughly a million North Americans.

“Until now, drugs used to treat Gaucher disease have not been able to enter the brain and reach those neurons that are affected in the most severe forms of Gaucher disease or in Parkinson’s disease,” said Ellen Sidransky, MD, a senior investigator with National Institutes for Health's National Human Genome Research Institute (NHGRI). “It’s really exciting to have found a molecule that theoretically could be widely available to treat people with these diseases. However, there’s a long distance between identifying this molecule and having an approved drug.”

Using a robot and labor-intensive technology, researchers sought to find a connection between Gaucher and Parkinson’s diseases. The study included:

• Converting pluripotent stem cells into neurons with features identical to Gaucher disease.
• Identified that the neurons from Gaucher and Parkinson’s patients had increased levels of alpha-synuclein.
• Using high-throughput drug screening, researchers analyzed thousands of molecules and were able to identify molecule NCGC607.
• The molecule was shown to have a reversing effect on the lipid and alpha-synucein amounts in Parkinson’s patients.

“This research constitutes a major advance,” said Daniel Kastner, MD, PhD, NHGRI scientific director. “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.”