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The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients

  • Věra Malinová
  • Grzegorz Węgrzyn
  • Magdalena NarajczykEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 5)

Abstract

Mucopolysaccharidoses (MPS) are severe, inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). Sanfilippo disease (mucopolysaccharidosis type III, MPS III) is described as severe neurological type of MPS, characterized by rapid deterioration of brain functions. No therapy for Sanfilippo disease is approved to date, however, a specific substrate reduction therapy (SRT), called gene expression-targeted isoflavone therapy (GET IT), has been used as an experimental therapy. In this report, we describe effects of treatment of six Sanfilippo disease patients with GET IT, in which the dose of genistein (5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one), an active compound of GET IT present in the soy isoflavone extract, has been increased to 10, and then to 15 mg/kg/day, contrary to the previously reported dose of 5 mg/kg/day. By measuring levels of urinary GAGs and assessing hair dysmorphology as biomarkers, and by considering clinical symptoms of patients, we obtained results suggesting that elevated doses of genistein may improve efficacy of GET IT for Sanfilippo disease.

Keywords

Mucopolysaccharidosis Type Substrate Reduction Therapy Elevated Dose Inherited Metabolic Disorder Hair Morphology 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

This research was supported by Ministry of Sciences and Higher Education of Poland (project grant no. N N301 668540 to GW), and was operated within the Foundation for Polish Science Team Programme co-financed by the EU European Regional Development Fund (grant no. TEAM/2008-2/7 to GW). A support from Polish MPS Society is greatly acknowledged.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Věra Malinová
    • 1
  • Grzegorz Węgrzyn
    • 2
  • Magdalena Narajczyk
    • 3
    Email author
  1. 1.Department of Pediatrics and Adolescent MedicineCharles UniversityPraha 2Czech Republic
  2. 2.Department of Molecular BiologyUniversity of GdańskGdańskPoland
  3. 3.Laboratory of Electron MicroscopyUniversity of GdańskGdańskPoland

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