Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

被引：17

作者：

Di Natale, Paola ^{[1
]}

Villani, Guglielmo R. D. ^{[1
]}

Parini, Rossella ^{[2
,3
]}

Scarpa, Maurizio ^{[4
]}

Parenti, Giancarlo ^{[5
]}

Pontarelli, Gianfranco ^{[1
]}

Grosso, Michela ^{[1
]}

Sersale, Giovanna ^{[2
,3
]}

Tomanin, Rosella ^{[4
]}

Sibilio, Michelina ^{[5
]}

Barone, Rita ^{[6
]}

Fiumara, Agata ^{[6
]}

机构：

[1] Univ Naples Federico II, Dept Biochem & Med Biotechnol, Naples, Italy

[2] Univ Milan, Dept Pediat, Milan, Italy

[3] Osped San Gerardo, Milan, Italy

[4] Univ Padua, Dept Pediat, Padua, Italy

[5] Univ Naples Federico II, Dept Pediat, Naples, Italy

[6] Univ Catania, Dept Pediat, Catania, Sicily, Italy

来源：

BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY | 2008年 / 49卷 / 3-4期

关键词：

D O I：

10.1042/BA20070093

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

MPS VI (mucopolysaccharidosis type VI) is a lysosomal storage disease in which deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase [ASB (arylsulfatase 13)] 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 TNF alpha (tumour necrosis factor a) might be a biomarker for MPS VI responsive to therapy. In addition to its role as a potential biomarker, TNF alpha expression could provide insights into the possible pathophysiological mechanisms underlying the mucopolysaccharidoses.

引用

页码：219 / 223

页数：5

共 17 条

[1] Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome):: Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase [J].