gaucher disease.

These microscopic images depict complement 3b deposition in lung sections from nine mice that were bred to mimic Gaucher disease. Targeting the molecule C5aR1 appears to block excess production of glucosylceramide, a hallmark of the disease.

Blocking a molecule that drives inflammation in Gaucher disease may be an effective treatment with fewer risks and lower costs than current therapies, scientists say. 

A research team led by Cincinnati Children’s and including investigators from the University of Lübeck in Germany studied lysosomal storage disease in mouse models and in cells from blood samples donated by people with Gaucher. They reported their results in February in Nature.

Normal levels of glucosylceramide protect cells and promote their proliferation. Too much can lead to Gaucher, a buildup of fatty substances in organs such as the spleen and liver that can enlarge the organs and affect their function.

 “Current enzyme replacement and substrate reduction therapies are expensive and still associated with inflammation, increased risk of malignancies and Parkinson’s disease,” says Manoj Pandey, PhD, study first author and a scientist in the Division of Human Genetics at Cincinnati Children’s. “We suggest that targeting a molecule called C5aR1 may serve as a viable treatment option for patients with Gaucher disease and possibly other lysosomal storage diseases.”