PL EN


Preferences help
enabled [disable] Abstract
Number of results
2012 | 59 | 4 | 693-696
Article title

Quantitative estimation of lysosomal storage in mucopolysaccharidoses by electron microscopy analysis

Content
Title variants
Languages of publication
EN
Abstracts
EN
Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). The level of accumulated GAGs is an important parameter in assessment of the severity of the disease and the efficacy of treatment; unfortunately, biochemical methods are often unreliable and only semi-quantitative. Therefore, finding other methods for estimation of GAG levels and/or assessment of the efficacy of applied therapy is very important. Although monitoring of GAG levels during therapy is crucial, in this work it is proposed that analysis of the ultrastructure of MPS cells by electron microscopic techniques can be considered as an alternative and reliable method for assessment of lysosomal storage. The number of complex lysosomal structures was found to be significantly higher in MPS cells relative to controls, while it decreased significantly in response to either enzyme replacement therapy or substrate reduction therapy. Thus, this parameter, easily assessed by electron microscopy, appears to correspond to the physiological state of MPS cells.
Year
Volume
59
Issue
4
Pages
693-696
Physical description
Dates
published
2012
received
2012-11-17
revised
2012-11-27
accepted
2012-12-06
(unknown)
2012-12-11
References
  • Aleu FP, Terry RD, Zellweger H (1965) Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24: 304-317.
  • 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.
  • Beck M (2007b) New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 121: 1-22.
  • 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.
  • 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.
  • Dziedzic D, Narajczyk M, Gabig-Cimińska M, Jakóbkiewicz-Banecka J (2012) Simultaneous siRNA-mediated silencing of pairs of genes coding for enzymes involved in glycosaminoglycan synthesis. Acta Biochim Pol 59: 293-298.
  • 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.
  • Herman-Antosiewicz A, Johnson DE, Singh SV (2006) Sulforaphane causes autophagy to inhibit release of cytochrome c and apoptosis in human prostate cancer cells. Cancer Res 66: 5828-5835.
  • Jakóbkiewicz-Banecka J, Piotrowska E, Narajczyk M, Barańska S, Węgrzyn 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 Biomed Sci 16: 26.
  • Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, Banecka-Majkutewicz Z, Węgrzyn 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.
  • Korir AK, Larive CK (2009) Advances in the separation, sensitive detection, and characterization of heparin and heparin sulfate. Anal Bioanal Chem 393: 155-169.
  • 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.
  • 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.
  • 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.
  • Narajczyk M., Tylki-Szymańska A., Węgrzyn G. (2012) Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease. Gene 504: 292-295.
  • 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.
  • Otomo T, Hossain MA, Ozono K, Sakai N (2012) Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts. Mol Genet Metab 105: 266-269.
  • Piotrowska E, Jakobkiewicz-Banecka J, Baranska S, Tylki-Szymańska A, Czartoryska B, Węgrzyn A, Węgrzyn 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.
  • Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Liberek A, Maryniak A, Malinowska M, Czartoryska B, Puk E, Kloska A, Liberek T, Barańska S, Węgrzyn A, Węgrzyn 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.
  • Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska 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.
  • 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.
  • 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.
  • 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.
  • Węgrzyn G, Jakóbkiewicz-Banecka J, Narajczyk M, Wiśniewski A, Piotrowska E, Gabig-Cimińska M, Kloska A, Słomińska-Wojewódzka M, Korzon-Burakowska A, Węgrzyn A (2010) Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different? Med Hypotheses 75: 605-609.
Document Type
Publication order reference
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv59p693kz
Identifiers
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.