Potential new treatment for Gaucher disease developed by scientists at Scripps Research Institute

TSRI's Kellogg School of Science and Technology.

A New Approach to an Old Disease

Gaucher disease, which is named after the French dermatologist Phillipe Gaucher, who first described the condition in 1882, is a genetic disease caused by heritable defects of an important metabolic enzyme called lysosomal beta-glucosidase. People with Gaucher disease have one or more defects in their beta-glucosidase genes, and these defects corrupt their beta-glucosidase enzyme. Some of these corrupted enzymes are apparently unstable because they cannot fold properly into their correct three-dimensional structure.

Normally beta-glucosidase resides and functions in macrophage lysosomes--the sac-like organelles that recycle macromolecules inside cells--where it breaks down fatty substances known as glucosylceramides. But the corrupted, mutant enzyme may fail to reach the lysosome, and as a result, the fatty glucosylceramides accumulate there. The macrophages become engorged with glucosylceramide-swollen lysosomes, which causes problems in the spleen, liver, lungs, bone marrow--and, in rare cases, the brain.

There are dozens of different mutations that can cause Gaucher disease, and the prevalence of the disease varies widely in different ethnic populations. Most at risk for the disease are individuals of Eastern European Jewish ancestry (the so-called Ashkenazi Jews), among whom about 1 in 14 carry one copy of one of the mutations of beta-glucosidase. As a result, the prevalence of Gaucher disease among Ashkenazi Jews has been estimated to be about 1 in 800. In the general population, about 1 in every 40,000 to 100,000 people have Gaucher disease.

The current approaches to treating Gaucher disease involve replacing the deficient enzyme, thereby breaking down the accumulated glucosylceramide and preventing it from accumulating. Enzyme replacement therapy is a highly effective way to restore people to good health, but it has a couple of serio

Contact: Jason Bardi
Scripps Research Institute

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