Quantitative estimation of lysosomal storage in mucopolysaccharidoses by electron microscopy analysis

Acta Biochimica Polonica

Volumn 59, Issue 4, 2012, Pages 693-696

  Narajczyk, Magdalena ^a   Moskot, Marta ^a   Konieczna, Aleksandra ^a  

^a UNIVERSITY OF GDA SK   (Poland)

Author keywords

Glycosaminoglycans; Mucopolysaccharidoses; Transmission electron microscopy

Indexed keywords

EID: 84873713018     PISSN: 0001527X     EISSN: 1734154X     Source Type: Journal    
DOI: 10.18388/abp.2012_2112     Document Type: Article

References (24)

1. Aleu FP, Terry RD, Zellweger H (1965) Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24: 304-317.
2. Beck M (2007a) Mucopolysaccharidoses: clinical features and management. In Genetic Metabolic Disorders: Management, Costs and Sociomedical Aspects. vom Dahl S, Wendel U, Strohmeyer G, eds, pp 13-18. Cologne: Deutscher Arzte-Verlag.
3. Beck M (2007b) New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 121: 1-22.
4. Delgadillo V, O'Callaghan Mdel M, Artuch R, Montero R, Pineda M (2011) Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis 34: 1039-1044.
5. de Ruijter J, Valstar MJ, Narajczyk M, Wegrzyn G, Kulik W, Ijlst L, Wagemans T, van der Wal WM, Wijburg FA (2012) Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 71: 110-120.
6. Dziedzic D, Narajczyk M, Gabig-Ciminska M, Jakóbkiewicz-Banecka J (2012) Simultaneus siRNA-mediated silencing of pairs of genes coding for enzymes involved in glycosaminoglycan synthesis. Acta Biochim. Pol. 59: 293-298.
7. Friso A, Tomanin R, Salvalaio M, Scarpa M (2010) Genistein reduces glycosaminoglycan levels in mouse model of mucopolysachcaridosis type II. Br J Pharmacol 159: 1082-1091.
8. Herman-Antosiewicz A, Johanson DE, Singh SV (2006) Sulfaraphane causes autophagy to inhibit release of cytochrome c and apoptosis in human prostate cancer cells. Cancer Res 66: 5828-5835.
9. Jakóbkiewicz-Banecka J, Piotrowska E, Narajczyk M, Baranska S, Wegrzyn G (2009) Genistein-mediated inhibition of glycosaminoglycan synthesis, which correct storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epiderma growth factor-dependent pathway. J. Biomem Sci. 16: 26.
10. Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, Banecka-Majkutewicz Z, Wegrzyn G (2011) Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses. Metab Brain Dis 26: 1-8.
11. Korir AK, Larive CK (2009) Advances in the separation, sensitive detection, and characterization of heparin and heparin sulfate. Anal Bioanal Chem 393: 155-169.
12. Lagunoff D, Gritzka TL (1966) The site of mucopolysaccharide accumulation in Hurler's syndrome. An electron microscopic and histochemical study. Lab Invest 15: 1578-1588.
13. Malinova V, Wegrzyn G, Narajczyk M (2012) The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy (GET IT) for Sanfilippo disease patients. JIMD Rep 5: 21-25.
14. Malinowska M, Wilkinson FL, Bennett W, Langford-Smith KJ, O'Leary HA, Jakobkiewicz-Banecka J, Wynn R, Wraith JE, Wegrzyn G, Bigger BW (2009) Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 98: 235-242.
15. Narajczyk M., Tylki-Szymanska A., Wegrzyn G. (2012) Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease. Gene 504: 292-295.
16. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In The metabolic and molecular bases of inherited disease. Scriver CR, Beaudet AL, Sly WS, Valle D, eds, pp 3421-3452. New York: McGraw-Hill Co.
17. Otomo T, Hossain MA, Ozono K, Sakai N (2012) Genistein reduces heparin sulfate accumulation in human mucolipidosis II skin fibroblasts. Mol Genet Metabol 105: 266-269.
18. Piotrowska E, Jakobkiewicz-Banecka J, Baranska S, Tylki-Szymanska A, Czrtoryska B, Wegrzyn A, Wegrzyn G (2006) Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 14: 846-852.
19. Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymanska A, Liberek A, Maryniak A, Malinowska M, Czartoryska B, Puk E, Kloska A, Liberek T, Baranska S, Wegrzyn A, Wegrzyn G (2008) Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. Curr Ther Res Clin Exp, 63: 166-179.
20. Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymanska A, Czartoryska B, Wegrzyn A, Wegrzyn G (2009). Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatr 98: 743-749.
21. Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A, Tylki-Szymanska A, Puk E, Liberek A, Wegrzyn A, Czartoryska B, Slominska-Wojewodzka M, Wegrzyn G (2011) Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. Med Sci Monit 17: CR196-CR202.
22. Tsai TH (2005) Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application. J Chromatogr A 1073: 317-322.
23. Unger EG, Durrant J, Anson DS, Hopwood JJ (1994) Recombinant α-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. Biochem J 304: 43-49.
24. Wegrzyn G, Jakóbkiewicz-Banecka J, Narajczyk M, Wisniewski A, Piotrowska E, Gabig-Ciminska M, Kloska A, Slominska-Wojewódzka M, Korzon-Burakowska A, Wegrzyn A (2010) Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different? Med Hypoth 75: 605-609.