Gaucher disease and the future of medicine

• Ana Batanero Domínguez ^[1]
  1. [1] Universidad Pablo de Olavide

     Universidad Pablo de Olavide

     Sevilla, España

     
• Localización: MoleQla: revista de Ciencias de la Universidad Pablo de Olavide, ISSN-e 2173-0903, Nº. 23, 2016
• Idioma: inglés
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• Resumen

  • Lysosomal storage diseases (LSD) are a group of inherited metabolic disorders caused by amutation in the genes that encode lysosomal enzymes resulting in an interruption in the e ndoplasmic reticulum (ER) to lysosomes traffic . Subsequent accumulation of metabolites intermediated can lead to a range of potentially life -threat ening pathologies.The most prevalent LSD is Gaucher disease (GD) characterized by the defective activity of the enzyme β-glucocerebrosidase and glucosylceramide accumulation. In recent year s, a new therapeutic treatment for GD has been analy sed called chemical chaperone therapy. It is a promising method focusing on a small molecule that can selectively bind to a target protein in the ER and stabilize the correct three -dimensional conformation allowing ER-lysosome traffic.

    Many new chaperones have recently been studied that have been classified depending on their chemical nature and , at present, the side-effects of the therapy as well as different possible applications are being investigated