Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

被引：60

作者：

Aerts, Johannes M. ^{[1
]}

van Breemen, Marielle J. ^{[1
]}

Bussink, Anton P. ^{[1
]}

Ghauharali, Karen ^{[1
]}

Sprenger, Richard ^{[1
]}

Boot, Rolf G. ^{[1
]}

Groener, Johanna E. ^{[1
]}

Hollak, Carla E. ^{[2
]}

Maas, Mario ^{[3
]}

Smit, Suzanne ^{[4
]}

Hoefsloot, Huub C. ^{[4
]}

Smildel, Age K. ^{[4
]}

Vissers, Johannes P. C. ^{[5
]}

de Jong, Sheryas ^{[1
]}

Speijer, Dave ^{[1
]}

de Koster, Chris G. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Med Biochem, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Internal Med, NL-1105 AZ Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Radiol, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Swammerdam Inst Life Sci, NL-1105 AZ Amsterdam, Netherlands

[5] Waters Corp, MS Technol Ctr, Manchester, Lancs, England

来源：

ACTA PAEDIATRICA | 2008年 / 97卷

关键词：

biomarker; chitotriosidase; Gaucher disease; lysosomal storage disorder; mass spectrometry;

D O I：

10.1111/j.1651-2227.2007.00641.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Potential clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. These applications are illustrated by reviewing the use of plasma chitotriosidase in the clinical management of patients with Gaucher disease, the most common LSD. The ongoing debate on the value of biomarkers in patient management is addressed. Novel analytical methods have revolutionized the identification and measurement of biomarkers at the protein and metabolite level. Recent developments in biomarker discovery by proteomics are described and the future for biomarkers of LSDs is discussed.

引用

页码：7 / 14

页数：8

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