Genistein supplementation in patients affected by Sanfilippo disease

Journal of Inherited Metabolic Disease

Volumn 34, Issue 5, 2011, Pages 1039-1044

  Delgadillo, Verónica ^a,b   Del Mar O'Callaghan, Maria ^a,c   Artuch, Rafael ^a,c   Montero, Raquel ^a,c   Pineda, Mercedes ^a,b,c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Fundacio Hospital Sant Joan de Déu   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENISTEIN; GLYCOSAMINOGLYCAN; ISOFLAVONE; UBIDECARENONE;

ABSENCE OF SIDE EFFECTS; ADULT; ARTICLE; CARBOHYDRATE ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL TRIAL; CUTANEOUS PARAMETERS; DISABILITY; DISEASE COURSE; DRUG EFFICACY; FEMALE; GASTROINTESTINAL SYMPTOM; HAIR ANALYSIS; HUMAN; LOW DRUG DOSE; MALE; MORPHOLOGY; NUTRITIONAL PARAMETERS; PRESCHOOL CHILD; QUALITY OF LIFE; RECURRENT INFECTION; SANFILIPPO SYNDROME; SCHOOL CHILD; SCORING SYSTEM; SKIN TEXTURE; SUPPLEMENTATION;

ADMINISTRATION, ORAL; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIETARY SUPPLEMENTS; DRUG ADMINISTRATION SCHEDULE; FEMALE; GENISTEIN; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS III; PILOT PROJECTS; QUALITY OF LIFE; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; YOUNG ADULT;

EID: 82955227397     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9342-4     Document Type: Article

References (21)

1. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421-3452
2. Kakkis ED, Muenzer J, Tiller GE et al (2001) Enzyme-replacement therapy in mucopolysaccharidoses I. N Engl J Med 334: 182-188
3. Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (Iaronidase). J Pediatr 144: 581-588 (Pubitemid 38594757)
4. Piotrowska E, Jakóbkiewicz-Banecka J, Baranska S et al (2006) Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 14: 846-8529
5. Tirone E, D'Alessandris C, Hascall VC et al (1997) Hyaluronan synthesis by mouse cumulus cells is regulated by interactions between follicle-stimulating hormone (or epidermal growth factor) and a soluble oocyte factor (or transforming growth factor beta1). J Biol Chem 272: 4787-4794 (Pubitemid 27090024)
6. Akiyama T, Ishida J, Nakagawa S et al (1987) Genistein, a specific inhibitor of tyrosine-specific protein kinase. J Biol Chem 262: 5592-5595
7. Kim H, Peterson TG, Barnes S (1998) Mechanisms of action of the soy isoflavone genistein: emerging role for its effects via transforming growth factor beta signaling pathways. Am J Clin Nutr 68 (Suppl1): 1418S-1425S (Pubitemid 28550923)
8. Piotrowska E, Jakobkiewicz-Banecka J, Tylki-Symanska A, Libereck A, Marynaik A et al (2008) Genistein-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an openlabel, pilot study in 10 pedatric patients. Curr Ther Res 69 (2): 166-179 (Pubitemid 351834736)
9. Piowtroska E, Jakóbkiewicz-Banecka J, W?grzyn G (2010) Different amounts of isoflavones in various commercially available soy extracts in the light of gene expression-targeted isoflavone therapy. Pytother Res 24: S109-S113
10. Malinowska M, Jakóbkiewicz-Banecka J, Kloska A et al (2008) Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses. Eur J Pediatr 167: 203-209
11. Artuch R, Colome C, Sierra C et al (2004) A longitudinal study of antioxidant status in phenylketonuric patients. Clin Biochem 37: 198-203 (Pubitemid 38221567)
12. de Jong JGN, Wevers RA, Laarakkers C, Poorthuis BJHM (1989) Dimethylmethylene blue-based spectrophotometry of glycosaminoglicans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35: 1472-1477 (Pubitemid 19187848)
13. de Jong JGN, Wevers RA, Liebrand-van Sambeek R (1992) Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 38: 803-807
14. Colome Mallolas C, Quintana Berga M, Puig Quintana RM, Moreno García J, Vilaseca Buscà M.A., Artuch Iriberri R (1999) Determination of glycosaminoglycans in urine by a spectrometric procedure. Reference values to pediatric population. Quím Clín 18(5): 278-281 (Pubitemid 30070334)
15. Bloedon LT, Jeffcoat AR, Lopaczynski W et al (2002) Safety and pharmacokinetics of purified soy isoflavones: single-dose administration to postmenopausal women. Am J Clin Nutr 76: 1126-1137 (Pubitemid 35244688)
16. Ullman U, Metzner J, Frank T et al (2005) Safety, tolerability, and pharmacokinetics of single ascending doses of synthetic genistein (Bonistein) in healthy volunteers. Adv Ther 22: 65-78 (Pubitemid 40646922)
17. Arfi A, Richard M, Gandolphe C, Scherman D (2010) Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones. J Inherit Metab Dis 33: 61-67
18. Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M , Banecka-Maikutewicz Z, Wegrzyn G (2011) Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses. Metab Brain Dis 261-268
19. Malinoska M, Wilkinson FL, Bennet W, Langford-Smith KJ, O'Leary HA et al (2009) Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 98: 235-242
20. Malinowska M, Wiljinson FL, Langford-Smith KJ, Langford-Smith A, Brown JR et al (2010) Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS ONE 5(12): e14192
21. Friso A, Tomanin R, Salvalaio M, Scarpa M (2010) Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 159: 1082-1091