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Molecular markers for the follow‐up of enzyme‐replacement therapy in mucopolysaccharidosis type VI disease
Author(s) -
Natale Paola Di,
Villani Guglielmo R. D.,
Parini Rossella,
Scarpa Maurizio,
Parenti Giancarlo,
Pontarelli Gianfranco,
Grosso Michela,
Sersale Giovanna,
Tomanin Rosella,
Sibilio Michelina,
Barone Rita,
Fiumara Agata
Publication year - 2008
Publication title -
biotechnology and applied biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.468
H-Index - 70
eISSN - 1470-8744
pISSN - 0885-4513
DOI - 10.1042/ba20070093
Subject(s) - enzyme replacement therapy , biomarker , lysosomal storage disease , dermatan sulfate , sulfatase , disease , recombinant dna , enzyme , mucopolysaccharidosis , mucopolysaccharidosis type ii , glycosaminoglycan , medicine , immunology , chemistry , biochemistry , chondroitin sulfate , gene
MPS VI (mucopolysaccharidosis type VI) is a lysosomal storage disease in which deficient activity of the enzyme N ‐acetylgalactosamine 4‐sulfatase [ASB (arylsulfatase B)] impairs the stepwise degradation of the GAG (glycosaminoglycan) dermatan sulfate. Clinical studies of ERT (enzyme replacement therapy) by using rhASB (recombinant human ASB) have been reported with promising results. The release of GAG into the urine is currently used as a biomarker of disease, reflecting in some cases disease severity and in all cases therapeutic responsiveness. Using RNA studies in four Italian patients undergoing ERT, we observed that TNFα (tumour necrosis factor α) might be a biomarker for MPS VI responsive to therapy. In addition to its role as a potential biomarker, TNFα expression could provide insights into the possible pathophysiological mechanisms underlying the mucopolysaccharidoses.