메뉴 건너뛰기




Volumn 60, Issue 6, 2012, Pages 461-468

Putative biological mechanisms of efficiency of substrate reduction therapies for mucopolysaccharidoses

Author keywords

Gene expression targeted isoflavone therapy; Genistein; Glycosaminoglycans; Lysosomal storage diseases; Mucopolysaccharidoses; Substrate reduction therapy

Indexed keywords

GENISTEIN; GLYCOSAMINOGLYCAN; PLACEBO; RHODAMINE B; SMALL INTERFERING RNA;

EID: 84872107505     PISSN: 0004069X     EISSN: 16614917     Source Type: Journal    
DOI: 10.1007/s00005-012-0195-9     Document Type: Review
Times cited : (15)

References (50)
  • 1
    • 79953016563 scopus 로고    scopus 로고
    • Therapies for neurological disease in the mucopolysaccharidoses
    • Anson DS, McIntyre C, Byers S (2011) Therapies for neurological disease in the mucopolysaccharidoses. Curr Gene Ther 11:132-143
    • (2011) Curr Gene Ther , vol.11 , pp. 132-143
    • Anson, D.S.1    McIntyre, C.2    Byers, S.3
  • 2
    • 77649235699 scopus 로고    scopus 로고
    • Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones
    • 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
    • (2010) J Inherit Metab Dis , vol.33 , pp. 61-67
    • Arfi, A.1    Richard, M.2    Gandolphe, C.3    Scherman, D.4
  • 3
    • 77950586398 scopus 로고    scopus 로고
    • Therapy for lysosomal storage disorders
    • Beck M (2010) Therapy for lysosomal storage disorders. IUBMB Life 62:33-40
    • (2010) IUBMB Life , vol.62 , pp. 33-40
    • Beck, M.1
  • 4
    • 0015295526 scopus 로고
    • A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate
    • Benson PF, Dean MF, Muir H (1972) A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate. Dev Med Child Neurol 14:69-74
    • (1972) Dev Med Child Neurol , vol.14 , pp. 69-74
    • Benson, P.F.1    Dean, M.F.2    Muir, H.3
  • 5
    • 0017387247 scopus 로고
    • Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings
    • Cain H, Egner E, Kresse H (1977) Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. Beitr Pathol 160:58-72
    • (1977) Beitr Pathol , vol.160 , pp. 58-72
    • Cain, H.1    Egner, E.2    Kresse, H.3
  • 6
    • 39049159592 scopus 로고    scopus 로고
    • Idursulfase for the treatment of mucopolysaccharidosis II
    • Clarke LA (2008) Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother 9:311-317
    • (2008) Expert Opin Pharmacother , vol.9 , pp. 311-317
    • Clarke, L.A.1
  • 7
    • 41949120595 scopus 로고    scopus 로고
    • Gene therapy: Some history, applications, problems, and prospects
    • Cotrim AP, Baum BJ (2008) Gene therapy: some history, applications, problems, and prospects. Toxicol Pathol 36:97-103
    • (2008) Toxicol Pathol , vol.36 , pp. 97-103
    • Cotrim, A.P.1    Baum, B.J.2
  • 11
    • 33646509678 scopus 로고
    • Metabolism of acid mucopolysaccharides
    • Dorfman A (1964) Metabolism of acid mucopolysaccharides. Biophys J 4(Suppl 1):155-165
    • (1964) Biophys J , vol.4 , Issue.SUPPL. 1 , pp. 155-165
    • Dorfman, A.1
  • 12
    • 74649083006 scopus 로고    scopus 로고
    • Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: A potential therapeutic approach for Sanfilippo disease
    • Dziedzic D, Wegrzyn G, Jakobkiewicz-Banecka J (2010) Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. Eur J Hum Genet 18:200-205
    • (2010) Eur J Hum Genet , vol.18 , pp. 200-205
    • Dziedzic, D.1    Wegrzyn, G.2    Jakobkiewicz-Banecka, J.3
  • 14
    • 77949343015 scopus 로고    scopus 로고
    • Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II
    • 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
    • (2010) Br J Pharmacol , vol.159 , pp. 1082-1091
    • Friso, A.1    Tomanin, R.2    Salvalaio, M.3    Scarpa, M.4
  • 16
    • 36849043985 scopus 로고    scopus 로고
    • Substrate deprivation therapy: A new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases
    • Jakobkiewicz-Banecka J, Wegrzyn A, Wegrzyn G (2007) Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet 48:383-388
    • (2007) J Appl Genet , vol.48 , pp. 383-388
    • Jakobkiewicz-Banecka, J.1    Wegrzyn, A.2    Wegrzyn, G.3
  • 17
    • 63449130617 scopus 로고    scopus 로고
    • Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway
    • Jakobkiewicz-Banecka J, Piotrowska E, Narajczyk M, Baranska S, Wegrzyn G (2009) Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J Biomed Sci 16:26
    • (2009) J Biomed Sci , vol.16 , pp. 26
    • Jakobkiewicz-Banecka, J.1    Piotrowska, E.2    Narajczyk, M.3    Baranska, S.4    Wegrzyn, G.5
  • 19
    • 74449083518 scopus 로고    scopus 로고
    • Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
    • Kaidonis X, Liaw WC, Roberts AD, Ly M, Anson D, Byers S (2010) Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Eur J Hum Genet 18:194-199
    • (2010) Eur J Hum Genet , vol.18 , pp. 194-199
    • Kaidonis, X.1    Liaw, W.C.2    Roberts, A.D.3    Ly, M.4    Anson, D.5    Byers, S.6
  • 20
    • 28444435927 scopus 로고    scopus 로고
    • Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme)
    • Kloska A, Bohdanowicz J, Konopa G et al (2005) Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme). Am J Med Genet A 139:199-203
    • (2005) Am J Med Genet A , vol.139 , pp. 199-203
    • Kloska, A.1    Bohdanowicz, J.2    Konopa, G.3
  • 21
    • 79955100797 scopus 로고    scopus 로고
    • Effects of flavonoids on glycosaminoglycan synthesis: Implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses
    • Kloska A, Jakobkiewicz-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
    • (2011) Metab Brain Dis , vol.26 , pp. 1-8
    • Kloska, A.1    Jakobkiewicz-Banecka, J.2    Narajczyk, M.3    Banecka-Majkutewicz, Z.4    Wegrzyn, G.5
  • 22
    • 77956428075 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice
    • Lau AA, Hannouche H, Rozaklis T, Hassiotis S, Hopwood JJ, Hemsley KM (2010) Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. Exp Neurol 225:445-454
    • (2010) Exp Neurol , vol.225 , pp. 445-454
    • Lau, A.A.1    Hannouche, H.2    Rozaklis, T.3    Hassiotis, S.4    Hopwood, J.J.5    Hemsley, K.M.6
  • 23
    • 84857227936 scopus 로고    scopus 로고
    • Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution
    • Machaczka M, Hast R, Dahlman I, Lerner R, Klimkowska M, Engvall M, Hägglund H (2012) Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution. Ups J Med Sci 117:28-34
    • (2012) Ups J Med Sci , vol.117 , pp. 28-34
    • Machaczka, M.1    Hast, R.2    Dahlman, I.3    Lerner, R.4    Klimkowska, M.5    Engvall, M.6    Hägglund, H.7
  • 24
    • 84885137965 scopus 로고    scopus 로고
    • The use of elevated doses of genistein-rich soy extract in the gene expressiontargeted isoflavone therapy (GET IT) for Sanfilippo disease patients
    • Malinova V, Wegrzyn G, Narajczyk M (2012) The use of elevated doses of genistein-rich soy extract in the gene expressiontargeted isoflavone therapy (GET IT) for Sanfilippo disease patients. JIMD Rep 5:21-25
    • (2012) JIMD Rep , vol.5 , pp. 21-25
    • Malinova, V.1    Wegrzyn, G.2    Narajczyk, M.3
  • 25
    • 37549032485 scopus 로고    scopus 로고
    • Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses
    • Malinowska M, Jakobkiewicz-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
    • (2008) Eur J Pediatr , vol.167 , pp. 203-209
    • Malinowska, M.1    Jakobkiewicz-Banecka, J.2    Kloska, A.3
  • 26
    • 70349820325 scopus 로고    scopus 로고
    • Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice
    • Malinowska M, Wilkinson FL, Bennett W et al (2009) Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 98:235-242
    • (2009) Mol Genet Metab , vol.98 , pp. 235-242
    • Malinowska, M.1    Wilkinson, F.L.2    Bennett, W.3
  • 27
    • 78649866475 scopus 로고    scopus 로고
    • Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease
    • Malinowska M, Wilkinson FL, Langford-Smith KJ et al (2010) Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS ONE 5:e14192
    • (2010) PLoS ONE , vol.5
    • Malinowska, M.1    Wilkinson, F.L.2    Langford-Smith, K.J.3
  • 28
    • 81155160850 scopus 로고    scopus 로고
    • Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression- targeted isoflavone therapy (GET IT)
    • Marucha J, Tylki-Szymanska A, Jakobkiewicz-Banecka J et al (2011) Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression- targeted isoflavone therapy (GET IT). Am J Med Genet A 155:2257-2262
    • (2011) Am J Med Genet A , vol.155 , pp. 2257-2262
    • Marucha, J.1    Tylki-Szymanska, A.2    Jakobkiewicz-Banecka, J.3
  • 32
    • 25844512590 scopus 로고    scopus 로고
    • An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
    • Pastores GM, Barnett NL, Kolodny EH (2005) An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther 27:1215-1227
    • (2005) Clin Ther , vol.27 , pp. 1215-1227
    • Pastores, G.M.1    Barnett, N.L.2    Kolodny, E.H.3
  • 33
    • 34547753513 scopus 로고    scopus 로고
    • Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
    • Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 6:765-772
    • (2007) Lancet Neurol , vol.6 , pp. 765-772
    • Patterson, M.C.1    Vecchio, D.2    Prady, H.3    Abel, L.4    Wraith, J.E.5
  • 34
    • 33745279635 scopus 로고    scopus 로고
    • Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
    • Piotrowska E, Jakobkiewicz-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 14:846-852
    • (2006) Eur J Hum Genet , vol.14 , pp. 846-852
    • Piotrowska, E.1    Jakobkiewicz-Banecka, J.2    Baranska, S.3
  • 35
    • 45149107757 scopus 로고    scopus 로고
    • The use of genistin-rich isoflavone extract in substrate reduction therapy for Sanfilippo disease: Open-label, pilot study in 10 pediatric patients
    • Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska A et al (2008) The use of genistin-rich isoflavone extract in substrate reduction therapy for Sanfilippo disease: open-label, pilot study in 10 pediatric patients. Curr Ther Res 69:166-179
    • (2008) Curr Ther Res , vol.69 , pp. 166-179
    • Piotrowska, E.1    Jakóbkiewicz-Banecka, J.2    Tylki-Szymańska, A.3
  • 36
    • 75749099273 scopus 로고    scopus 로고
    • Different amounts of isoflavones in various commercially available soy extracts in the light of gene expression-targeted isoflavone therapy
    • Piotrowska E, Jakobkiewicz-Banecka J, Wegrzyn G (2010) Different amounts of isoflavones in various commercially available soy extracts in the light of gene expression-targeted isoflavone therapy. Phytother Res 24(Suppl 1):S109-S113
    • (2010) Phytother Res , vol.24 , Issue.SUPPL. 1
    • Piotrowska, E.1    Jakobkiewicz-Banecka, J.2    Wegrzyn, G.3
  • 37
    • 79953703689 scopus 로고    scopus 로고
    • 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
    • Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A et al (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
    • (2011) Med Sci Monit , vol.17
    • Piotrowska, E.1    Jakobkiewicz-Banecka, J.2    Maryniak, A.3
  • 38
    • 48749084652 scopus 로고    scopus 로고
    • Immune response hinders therapy for lysosomal storage diseases
    • Ponder KP (2008) Immune response hinders therapy for lysosomal storage diseases. J Clin Invest 118:2686-2689
    • (2008) J Clin Invest , vol.118 , pp. 2686-2689
    • Ponder, K.P.1
  • 39
    • 72449148318 scopus 로고    scopus 로고
    • Transplant outcomes in mucopolysaccharidoses
    • Prasad VK, Kurtzberg J (2010) Transplant outcomes in mucopolysaccharidoses. Semin Hematol 47:59-69
    • (2010) Semin Hematol , vol.47 , pp. 59-69
    • Prasad, V.K.1    Kurtzberg, J.2
  • 40
    • 33747610195 scopus 로고    scopus 로고
    • Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA
    • Roberts AL, Thomas BJ, Wilkinson AS, Fletcher JM, Byers S (2006) Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. Pediatr Res 60:309-314
    • (2006) Pediatr Res , vol.60 , pp. 309-314
    • Roberts, A.L.1    Thomas, B.J.2    Wilkinson, A.S.3    Fletcher, J.M.4    Byers, S.5
  • 41
    • 34548411851 scopus 로고    scopus 로고
    • Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA
    • Roberts AL, Rees MH, Klebe S, Fletcher JM, Byers S (2007) Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. Mol Genet Metab 92:115-121
    • (2007) Mol Genet Metab , vol.92 , pp. 115-121
    • Roberts, A.L.1    Rees, M.H.2    Klebe, S.3    Fletcher, J.M.4    Byers, S.5
  • 43
    • 82255175847 scopus 로고    scopus 로고
    • Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form - No positive effects after 2-years of miglustat therapy
    • Tylki-Szymańska A, Groener JE, Kamiński ML, Ługowska A, Jurkiewicz E, Czartoryska B (2011) Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form - no positive effects after 2-years of miglustat therapy. Mol Genet Metab 104:627-630
    • (2011) Mol Genet Metab , vol.104 , pp. 627-630
    • Tylki-Szymańska, A.1    Groener, J.E.2    Kamiński, M.L.3    Ługowska, A.4    Jurkiewicz, E.5    Czartoryska, B.6
  • 44
    • 0015132463 scopus 로고
    • Electron microscopy of intestinal suction-biopsy specimens as an aid in the diagnosis of mucopolysaccharidoses and other lysosomal storage diseases
    • Van Gemund JJ, Daems WT, Vio PA, Giesberts MA (1971) Electron microscopy of intestinal suction-biopsy specimens as an aid in the diagnosis of mucopolysaccharidoses and other lysosomal storage diseases. Maandschr Kindergeneeskd 39:211-217
    • (1971) Maandschr Kindergeneeskd , vol.39 , pp. 211-217
    • Van Gemund, J.J.1    Daems, W.T.2    Vio, P.A.3    Giesberts, M.A.4
  • 45
    • 84859083422 scopus 로고    scopus 로고
    • Gene expression-targeted isoflavone therapy
    • Wegrzyn A (2012) Gene expression-targeted isoflavone therapy. IUBMB Life 64:307-315
    • (2012) IUBMB Life , vol.64 , pp. 307-315
    • Wegrzyn, A.1
  • 46
    • 2542505572 scopus 로고    scopus 로고
    • A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses
    • Wegrzyn G, Wegrzyn A, Tylki-Szymanska A (2004) A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Med Hypotheses 62:986-992
    • (2004) Med Hypotheses , vol.62 , pp. 986-992
    • Wegrzyn, G.1    Wegrzyn, A.2    Tylki-Szymanska, A.3
  • 47
    • 34547642178 scopus 로고    scopus 로고
    • Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy
    • Wegrzyn G, Tylki-Szymanska A, Liberek A et al (2007) Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy. Am J Med Genet A 143:1925-1927
    • (2007) Am J Med Genet A , vol.143 , pp. 1925-1927
    • Wegrzyn, G.1    Tylki-Szymanska, A.2    Liberek, A.3
  • 48
    • 77958481823 scopus 로고    scopus 로고
    • Why are behaviors of children suffering fromvarious neuronopathic types of mucopolysaccharidoses different?
    • WegrzynG, Jakobkiewicz-Banecka J,NarajczykMet al (2010)Why are behaviors of children suffering fromvarious neuronopathic types of mucopolysaccharidoses different? Med Hypotheses 75:605-609
    • (2010) Med Hypotheses , vol.75 , pp. 605-609
    • Wegrzyn, G.1    Jakobkiewicz-Banecka, J.2    Narajczyk, M.3
  • 50
    • 41049096402 scopus 로고    scopus 로고
    • Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II
    • Wraith JE (2008) Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatr Suppl 97:76-78
    • (2008) Acta Paediatr Suppl , vol.97 , pp. 76-78
    • Wraith, J.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.