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Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression‐targeted isoflavone therapy (GET IT)
Author(s) -
Marucha Jolanta,
TylkiSzymańska Anna,
JakóbkiewiczBanecka Joanna,
Piotrowska Ewa,
Kloska Anna,
Czartoryska Barbara,
Węgrzyn Grzegorz
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34146
Subject(s) - mucopolysaccharidosis type ii , genistein , hunter syndrome , dermatan sulfate , substrate reduction therapy , genetic enhancement , mucopolysaccharidosis , glycosaminoglycan , heparan sulfate , cancer research , endocrinology , medicine , chemistry , enzyme replacement therapy , biology , disease , gene , biochemistry
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. © 2011 Wiley‐Liss, Inc.