Abstract
Mucopolysaccharidoses (MPS) are a group of inherited, progressive, metabolic diseases, caused by the deficiency of one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). The disease is usually fatal, with the life span of most untreated MPS patients being between one and two decades. In this report, on the basis of scanning electron microscopy (SEM) studies, we demonstrate that, besides the many other symptoms of MPS, there are characteristic abnormalities in the hair morphology of patients suffering from some types of this disease (MPS I, MPS II, MPS IIIA, MPS IIIB), but not from other types (MPS IVA, MPS IVB, MPS VI), where the changes are minor, if any. Different GAGs accumulate in the tissues of patients suffering from the various MPS types, and analysis of the disease types in which severe hair abnormalities occur or not could suggest that the accumulation of heparan sulfate, rather than dermatan sulfate or keratan sufate, may be responsible for the major changes in hair morphology. Considerable abnormalities in hair morphology occur in patients suffering from MPS I, MPS II, MPS IIIA, and MPS IIIB, but not in patients suffering from MPS IVA, MPS IVB, and MPS VI; this feature might potentially be used as an additional test for the assessment of the efficacy of treatments for MPS patients (types I, II, IIIA, and IIIB).
Similar content being viewed by others
Abbreviations
- DS:
-
dermatan sulfate
- GAG:
-
glycosaminoglycan
- HS:
-
heparan sulfate
- KS:
-
keratan sulfate
- MPS:
-
mucopolysaccharidosis
References
Bosch A, Heard JM (2003) Gene therapy for mucopolysaccharidosis. Int Rev Neurobiol 55:271–296
Brady RO (2006) Enzyme replacement for lysosomal diseases. Annu Rev Med 57:283–296
Brooks DA, Muller VJ, Hopwood JJ (2006) Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med 12(8):367–373
Charan RK, Nauer G, Wagner U, Klabuschnig A, Lubec G (1986) Physicochemical hair conformation of patients with Sanfilippo disease type IIIA. Padiatr Padol 21(3):249–256
Crump IA, Danks DM (1971) Simple method for cutting transverse sections of hair. Comments on shape of hair in Hurler and Sanfilippo syndromes. Arch Dis Child 46(247):383–386
Ellinwood NM, Vite CH, Haskins ME (2004) Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med 6(5):481–506
Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ; MPS VI Phase 3 Study Group (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 148(4):533–539
Hinek A, Wilson SE (2000) Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156(3):925–938
Kloska A, Bohdanowicz J, Konopa G, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Czartoryska B, Liberek A, Węgrzyn A, Węgrzyn G (2005) Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme). Am J Med Genet A 139(3):199–203
Lubec G, Nauer G (1988) Infrared spectroscopy studies on the conformation of human hair. Padiatr Padol 23(2):101–108
Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Kimura A (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8(8):465–473
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
Piotrowska E, Jakóbkiewicz-Banecka J, Barańska 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(7):846–852
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(3):309–314
Schiffmann R, Brady RO (2002) New prospects for the treatment of lysosomal storage diseases. Drugs 62(5):733–742
Silengo M, Valenzise M, Sorasio L, Ferrero GB (2002) Hair as a diagnostic tool in dysmorphology. Clin Genet 62(4):270–272
Sperling LC (2001) Hair and systemic disease. Dermatol Clin 19(4):711–726
Teschler-Nicola M, Killian W (1982) Observations on hair shaft morphology in mucopolysaccharidoses. J Ment Defic Res 26(Pt 3):193–202
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144(5):581–588
Acknowledgment
This work was supported by the Polish Ministry of Science and Higher Education (grant no. 2 P05A 103 26).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Malinowska, M., Jakóbkiewicz-Banecka, J., Kloska, A. et al. Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses. Eur J Pediatr 167, 203–209 (2008). https://doi.org/10.1007/s00431-007-0462-7
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-007-0462-7