Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

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• 作者：Ewa Piotrowska ; Joanna Jakó ; bkiewicz-Banecka ; Anna Tylki-Szymanska ; Anna Liberek ; Agnieszka Maryniak ; Marcelina Malinowska ; Barbara Czartoryska ; Ewa Puk ; Anna Kloska ; Tomasz Liberek ; Sylwia Barans
• 关键词：mucopolysaccharidosis ; substrate reduction therapy ; genistein ; genistin ; gene expression
• 刊名：Current Therapeutic Research
• 出版年：2008
• 出版时间：April 2008
• 年：2008
• 卷：69
• 期：2
• 页码：166-179
• 全文大小：1513 K

文摘

Background: Mucopolysaccharidoses (MPSs) are a group of severe metabolic disorders caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans (GAGs)—long chains of sugar carbohydrates in cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue. Although enzyme replacement therapy has become available for the treatment of some types of MPS, effective treatment of neurodegenerative forms of MPS has yet to be determined. Recently, genistein (4',5,7-trihydroxyisoflavone), a specific inhibitor of protein tyrosine kinase, has been found to inhibit GAG synthesis and to reduce GAG concentrations in cultures of fibroblasts of MPS patients. Therefore, a potential substrate reduction therapy has been proposed.