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Research on Asthma Unexpectedly Leads to New Treatment for Inherited Enzyme Disease

Posted on October 27, 2016 by Disability Help Group

Researchers at NYU Langone Medical Center set out to find answers about asthma but ended up improving knowledge of an inherited enzyme disease. The researchers were attempting to determine how the progranulin protein protects the lungs from asthma-related damage. While the study was in progress, the team discovered more information about progranulin’s purpose in lung health.

After a significant discovery, the study’s focus shifted to Gaucher’s disease, an inherited enzyme disease that causes a glitch in the body’s lysosomes which are responsible for processing fats and removing waste from cells. Gaucher’s can cause joint pain, enlarged spleens and livers, lung damage, blood disorders, and memory loss.

In the trials, researchers added synthetic progranulin to the blood cells of Gaucher’s patients. The study, published in EbioMedicine, found that adding progranulin created a 40 percent reduction in the clumping of the beta-glucocerebrosidase (GBA) enzyme. This enzyme builds up outside lysosomes, instead of inside, in patients with Gaucher’s.

Current treatments for Gaucher’s focus on replenishing the lysosomal GBA, rather than correcting the GBA’s transport. The synthetic progranulin allowed researchers to improve the GBA clumping in lysosomes safely and learn more about its role in Gaucher’s and other lung diseases.

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