title: Gene therapy: prospects for glycolipid storage diseases.
abstract: Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, and deficiencies affecting glycopeptides cause glycoproteinosis. In glycolipid storage diseases enzymes are deficient that are involved in the degradation of sphingolipids. Mouse models are available for most of these diseases, and some of these mouse models have been used to study the applicability of in vivo gene therapy. We review the rationale for gene therapy in lysosomal disorders and present data, in particular, about trials in an animal model of metachromatic leukodystrophy. The data of these trials are compared with those obtained with animal models of other lysosomal diseases.
authors.affiliation: Institut für Physiologische Chemie, Rheinische-Friedrich-Wilhelms Universität, Bonn 53115, Germany. gieselmann@institut.physiochem.uni-bonn.de
authors.forename: Volkmar
authors.initials: V
authors.lastname: Gieselmann
authors.forename: Ulrich
authors.initials: U
authors.lastname: Matzner
authors.forename: Diana
authors.initials: D
authors.lastname: Klein
authors.forename: Jan Eric
authors.initials: JE
authors.lastname: Mansson
authors.forename: Rudi
authors.initials: R
authors.lastname: D'Hooge
authors.forename: Peter D
authors.initials: PD
authors.lastname: DeDeyn
authors.forename: Renate
authors.initials: R
authors.lastname: Lüllmann Rauch
authors.forename: Dieter
authors.initials: D
authors.lastname: Hartmann
authors.forename: Klaus
authors.initials: K
authors.lastname: Harzer
mesh_terms: D000818:Animals; D015316:Genetic Therapy / Q000639:trends*; D006801:Humans; D013106:Sphingolipidoses / Q000628:therapy*