戈谢氏病致病机制及治疗方法

doi:10.16288/j.yczz.14-459

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HEREDITAS(Beijing) ›› 2015, Vol. 37 ›› Issue (6): 510-516.doi: 10.16288/j.yczz.14-459

• Reviews • Previous Articles Next Articles

Pathogenic mechanism and therapies for Gaucher’s disease

Linyu Liu¹, Sichen Du², Jin Zhang¹, Duan Ma^{1, 2}

1. The Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Fudan University, Shanghai 200032, China;
2. Research Center for Birth Defects, Fudan University, Shanghai 200032, China

Received:2014-12-25 Revised:2015-01-23 Online:2015-06-20 Published:2015-03-18

Abstract

Abstract: Gaucher's disease (GD) also named glucocerebroside lipidosis, is the most common kind of 1ysosomal storage disorder. It results from an autosomal recessive deficiency of the lysosomal enzyme acid β-glucosidase/ β-glucocerebrosidase (GBA), which is responsible for hydrolysis of glucocerebroside/glucosylceramide (GlcCer) into glucose and ceramide. Absent or reduced enzymatic activity of GBA leads to multisystemic accumulation of GlcCer in mononuclear phagocyte system and various tissues, such as brain, liver, spleen and so on, causing brain injury, liver splenomegaly, bone damage, the reduction of blood cells and individual growth retardation. GD type I could be treated by enzyme replacement therapy (ERT), but GD types II and III have not effective treatment. In this review, we summarize the recent progress on pathogenic mechanism and therapies in GD.

Key words: Gaucher's disease, β, -glucocerebrosidase, pathogenic mechanism, enzyme replacement therapy, gene therapy

Linyu Liu, Sichen Du, Jin Zhang, Duan Ma. Pathogenic mechanism and therapies for Gaucher’s disease[J]. HEREDITAS(Beijing), 2015, 37(6): 510-516.

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Pathogenic mechanism and therapies for Gaucher’s disease

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