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KMID : 0918520130130010037
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Journal of the Korean Society of Inherited Metabolic Disease
2013 Volume.13 No. 1 p.37 ~ p.42
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Chaperone Therapy in Gaucher Disease
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Leel Beom-Hee
Heo Sun-H
Cheon Chong-Kun
Kim Yoo-Mi
Kim Ja-Hye
Choi In-Hee
Kim Jae-Min
Kim Gu-Hwan
Yoo Han-Wook
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Abstract
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Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase (GBA). This condition is characterized by accumulation of glucocerebrosidase in liver, spleen, lung, skeletal system, and central nervous system. Gaucher disease is the prototype of disease in which efficacy of enzyme replacement therapy has been established. However, because recombinant enzyme is not able to enter the central nervous system, its efficacy is limited to the non-neurological manifestations of Gaucher disease. Importantly, approximately a half of Korean patients with Gaucher disease suffer from neurological manifestations. In addition, Korean Gaucher disease patients exhibit distinct mutation spectrum from those in other populations. Common mutations in Korean patients with Gaucher disease are also associated with neurological phenotype. Therefore, therapeutic strategies tailored to Korean patients were necessary. Interestingly, a chemical chaperone, ambroxol, has been known to increase residual enzymatic activities of the select mutant GBAs encoded by mutations prevalent in Korean patients. One promising aspect of this drug is that it can cross blood-brain barrier, and enhance the enzyme activity in the brain. In vitro study suggested this chemical chaperone as one of new therapeutic agents in Gaucher disease, and a well-designed human trial is required to confirm its efficacy.
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KEYWORD
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Gaucher disease, Ambroxol, Chaperone, Treatment
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