Resumen de Gaucher disease and the future of medicine
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
