title: Gene therapy for cardiovascular manifestations of lysosomal storage diseases.
abstract: Cardiac disease causes morbidity in several lysosomal storage diseases, which are the result of deficient activity of lysosomal enzymes. Mucopolysaccharidosis (MPS) causes aortic and valvular disease, Pompe disease causes cardiac muscle weakness, and Fabry disease causes left ventricular hypertrophy. Enzyme replacement therapy involves intravenous injection of enzyme modified with mannose 6-phosphate, which can be taken up by cells, and is currently approved for some lysosomal storage diseases. Gene therapy can result in secretion of mannose 6-phosphate-modified enzyme into blood, from where it can; similarly, be taken up by cells. Gene therapy has been effective in animal models of lysosomal storage disease, and holds great promise.
authors.affiliation: Department of Clinical Studies, University of Pennsylvania Veterinary School, Philadelphia.
authors.forename: Meg M
authors.initials: MM
authors.lastname: Sleeper
authors.affiliation: Department of Pathobiology, University of Pennsylvania Veterinary School, Philadelphia.
authors.forename: Mark E
authors.initials: ME
authors.lastname: Haskins
authors.affiliation: Departments of Internal Medicine and Biochemistry and Molecular Biophysics, Washington University School of Medicine, St Louis USA.
authors.forename: Katherine P
authors.initials: KP
authors.lastname: Ponder
keywords: Animal models; gene therapy; lysosomal storage disease; mucopolysaccharidosis; valve