Cellular and Molecular Life Sciences CMLS

, Volume 59, Issue 4, pp 694–707

Gaucher disease: perspectives on a prototype lysosomal disease

  • H. Zhao
  • G. A. Grabowski

Abstract.

Gaucher disease is an autosomal recessive trait and the most common lysosomal storage disease. The pathogenesis evolves from the diminished activity of the lysosomal hydrolase, acid β-glucosidase and the resultant accumulation of glucosylceramide within lysosomes. The pathogenic mechanisms are poorly understood. During the past 2 decades, progress has been made in understanding the biochemical basis and molecular biology of the disease, but more fundamental knowledge is required to relate these advances to the cell and whole body phenotypes. Despite this lack of understanding, enzyme replacement therapy has proved a successful and effective management for Gaucher disease. However, basic details of this therapeutic efficacy require elucidation. Here, we review the current state of the molecular pathogenesis and provide our perspective of some major issues for continued advances in this prototype lysosomal storage disease.

Key words. Glucosidase; glucocerebrosidase; glucocerebroside; glycosphingolipid; macrophage; chitotriosidase; cytokines; enzyme therapy; gene therapy. 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Birkhäuser Verlag, 2002

Authors and Affiliations

  • H. Zhao
    • 1
  • G. A. Grabowski
    • 1
  1. 1.Division and Program in Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, RCHRF 1042, Cincinnati, Ohio 45229-3039 (USA), Fax +513 636 2261, e-mail: greg.grabowski@chmcc.orgUS

Personalised recommendations