Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders characterized by a deficiency in one of the lysosomal enzymes required to degrade glycosaminoglycans (GAGs) [1]. In all MPS subtypes, partially degraded GAG(s) accumulate in the lysosomes of affected cells and/or are eliminated in the blood and excreted in the urine. Therapeutic approach towards MPS patients has offered various treatment options represented by enzyme replacement therapy [2], hematopoietic stem cell transplantation [3] and experimental gene therapies [4]. However, for treatment to be successful, patients need to be treated earlier in the course of their disease and early identification of the clinically asymptomatic subjects requires screening by means of specific and sensitive tests. In this study, we present a rapid agarose-gel electrophoresis analysis for the quali-quantitative evaluation of high-molecular mass urinary GAGs with a view to a possible application in the early diagnosis of MPS.

Agarose-gel electrophoresis for the diagnosis of mucopolysaccharidoses / Coppa, G; Buzzega, Dania; Zampini, L; Maccari, Francesca; Galeazzi, T; Padella, L; Santoro, L; Gabrielli, O; Volpi, Nicola. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1434-6621. - STAMPA. - 50:3(2012), pp. 589-592. [10.1515/CCLM.2011.798]

Agarose-gel electrophoresis for the diagnosis of mucopolysaccharidoses

BUZZEGA, DANIA;MACCARI, Francesca;VOLPI, Nicola
2012

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders characterized by a deficiency in one of the lysosomal enzymes required to degrade glycosaminoglycans (GAGs) [1]. In all MPS subtypes, partially degraded GAG(s) accumulate in the lysosomes of affected cells and/or are eliminated in the blood and excreted in the urine. Therapeutic approach towards MPS patients has offered various treatment options represented by enzyme replacement therapy [2], hematopoietic stem cell transplantation [3] and experimental gene therapies [4]. However, for treatment to be successful, patients need to be treated earlier in the course of their disease and early identification of the clinically asymptomatic subjects requires screening by means of specific and sensitive tests. In this study, we present a rapid agarose-gel electrophoresis analysis for the quali-quantitative evaluation of high-molecular mass urinary GAGs with a view to a possible application in the early diagnosis of MPS.
2012
23-nov-2011
50
3
589
592
Agarose-gel electrophoresis for the diagnosis of mucopolysaccharidoses / Coppa, G; Buzzega, Dania; Zampini, L; Maccari, Francesca; Galeazzi, T; Padella, L; Santoro, L; Gabrielli, O; Volpi, Nicola. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1434-6621. - STAMPA. - 50:3(2012), pp. 589-592. [10.1515/CCLM.2011.798]
Coppa, G; Buzzega, Dania; Zampini, L; Maccari, Francesca; Galeazzi, T; Padella, L; Santoro, L; Gabrielli, O; Volpi, Nicola
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/696668
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 8
  • ???jsp.display-item.citation.isi??? 5
social impact