Potential Treatment for Gaucher's Disease

A mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases has been described by scientists at The Scripps Research Institute.

In the new study, the researchers revealed how the widely available prescription drugs diltiazem, verapamil, and in some cases dantrolene, acted on cells from patients with Gaucher's disease.

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The drugs increased calcium levels in a subcellular compartment called the endoplasmic reticulum-a convoluted membranous sac within the cell where the folding of many proteins takes place.

"This study is likely to motivate clinical trials for the treatment of neuropathic lysosomal storage diseases, including Gaucher's disease, where the current standard of care, enzyme replacement therapy, is ineffective," Nature quoted team leader Dr. Jeffery Kelly, as saying.

"The research is especially promising because we enhanced the cellular folding and function of mutated lysosomal enzymes, whose deficient function is linked to lysosomal storage diseases, using two distinct categories of FDA-approved drugs that have been shown to be safe and effective for the treatment of high blood pressure and muscle spasms," he added.

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"We wanted to uncover general principles that could be applied to a variety of loss-of-function protein misfolding diseases. This study reveals how we can enhance the capacity of the cellular machinery to fold and traffic a mutant enzyme, so that the protein can function better," said Derrick Sek Tong Ong, first author of the paper.

Gaucher's disease is the most common genetic disease among the Ashkenazi Jewish population of Eastern European ancestry.

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Symptoms include bruising easily due to low blood platelets, enlargement of the liver and spleen, and fatigue due to anaemia.

In the new paper, the lab found that the prescription drugs diltiazem and verapamil were effective in restoring partial cellular folding, trafficking, and function to mutant enzymes responsible for three lysosomal storage disorders, including Gaucher's disease.

The findings were published in an advance, online edition of the journal Nature Chemical Biology.

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