Gaucher Disease

Researchers from Jikei University, Department of Pediatrics publish findings in Gaucher disease in children

Published in Genetics and Environmental Business Week, March 11th, 2010

A new study, 'Gaucher disease patient with myoclonus epilepsy and a novel mutation,' is now available. According to a study from Tokyo, Japan, "The N188S mutation in Gaucher disease is associated with myoclonus epilepsy. We performed genetic analysis on a patient with progressive myoclonus epilepsy, who had received antiepileptic drugs for over 10 years."

"We detected N188S/G199D on the gene encoding glucocerebrosidase. Mutant proteins carrying each mutation were expressed in COS-1 cells (a commonly used cell line which derives from kidney cells of the African green monkey). Measurements of enzymatic activity and Western blotting analysis were performed. When residual...

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Source: Genetics and Environmental Business Week (2010-03-11)

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