title: [Principles of therapeutic approaches for mucopolysaccharidoses].
abstract: Mucopolysaccharidoses (MPS) are caused by a deficiency of enzymes involved in the catabolism of glycosaminoglycans (GAGs) and are multisystemic diseases, often including the central nervous system. Despite their rare prevalence, specific treatments for MPS are available. One of them is enzyme replacement therapy, which provides the missing enzyme in the form of a recombinant protein administered intravenously. The effectiveness of this treatment relies on the enzymes being taken up by the different tissues via mannose-6-phosphate receptors. Treatment is currently available for MPS I, II and VI, and may be available for other forms of the disease in the near future. An alternative in MPS I is hematopoietic stem cell transplantation, the indications for which must be very clearly defined, particularly given the inherent risks of the procedure. Other new treatment strategies are currently being investigated, including substrate reduction therapy which uses GAG biosynthesis inhibitors (genistein,...), which reduces the accumulation of pathological compounds and their repercussions on tissues. Other molecular therapies using molecular chaperones or read-through molecules for stop codon mutations are also being studied. Finally, gene therapy, by introducing a normal gene sequence through a viral vector, either directly or using genetically modified cells, is a potential future method (the first clinical trials are undergoing).
authors: Service de biochimie, métabolomique et protéomique, hôpital Necker-Enfants malades (AP-HP), 149, rue de Sèvres, 75015 Paris, France; INSERM U845, université Paris Descartes, Sorbonne Paris Cité, 12, rue de l'École-de-Médecine, 75270 Paris cedex 06, France; INSERM 1151, Institut Necker-Enfants malades (INEM), Département de Biologie Cellulaire, Bâtiment Lericle, 14 rue Maria Helena Vieira de Silva, 75993 Paris cedex 14, France. Electronic address: catherine.caillaud@inserm.fr.
authors: C
authors: C
authors: Caillaud
mesh_terms: D002648:Child; D056947:Enzyme Replacement Therapy; D015316:Genetic Therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D058990:Molecular Targeted Therapy; D009083:Mucopolysaccharidoses / Q000628:therapy*