title: Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
abstract: Mucopolysaccharidosis type II (MPS II, Hunter disease) is an X chromosome-linked inherited metabolic disease caused by mutations resulting in deficiency of activity of iduronate-2-sulfatase (IDS) and accumulation of undegraded glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate. Previous experiments with cell cultures and studies on animal model of MPS II suggested that gene expression-targeted isoflavone therapy (GET IT), based on genistein-mediated reduction of efficiency of GAG synthesis, might be a suitable therapy for this disease. In this report, we demonstrate efficacy of GET IT in connective tissue elasticity, particularly in improving the range of joint motion in seven patients with MPS II after 26 weeks of treatment with an isoflavone extract at the dose corresponding to 5 mg/kg/day of genistein.
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Marucha
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Joanna
authors.initials: J
authors.lastname: Jakóbkiewicz-Banecka
authors.forename: Ewa
authors.initials: E
authors.lastname: Piotrowska
authors.forename: Anna
authors.initials: A
authors.lastname: Kloska
authors.forename: Barbara
authors.initials: B
authors.lastname: Czartoryska
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Węgrzyn
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003238:Connective Tissue / Q000187:drug effects* / Q000503:physiopathology; D015870:Gene Expression / Q000187:drug effects; D019833:Genistein / Q000008:administration & dosage / Q000627:therapeutic use*; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007529:Isoflavones / Q000008:administration & dosage / Q000627:therapeutic use*; D008297:Male; D058990:Molecular Targeted Therapy; D016532:Mucopolysaccharidosis II / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology*; D016059:Range of Motion, Articular / Q000187:drug effects* / Q000502:physiology
chemical_list: D006025:Glycosaminoglycans; D007529:Isoflavones; D019833:Genistein