Back to Search
Start Over
Chitotriosidase as a biomarker for gangliosidoses
- Source :
- Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100803-(2021), Molecular Genetics and Metabolism Reports
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
-
Abstract
- Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states. For over a decade, CHITO plasma levels have been used by clinicians as a biomarker of inflammation in the lysosomal disease, Gaucher disease, including monitoring response to therapies in patients with Gaucher disease type I. Although it is becoming increasingly recognized that inflammation is a prominent component of many lysosomal diseases, the relation of CHITO levels to disease burden has not been well-characterized in the large majority of lysosomal diseases. Moreover, the role of CHITO in lysosomal diseases that affect the central nervous system (CNS) has not been systematically studied. In this study, one hundred and thirty-four specimens of CSF and serum were collected from 34 patients with lysosomal diseases affecting the CNS. This study included patients with GM1-gangliosidosis, GM2-gangliosidosis, mucopolysaccharidoses (MPS), multiple sulfatase deficiency and Gaucher disease. CHITO levels in the CSF were significantly higher in patients with more rapidly progressing severe neurological impairment: GM1-gangliosidosis vs MPS (p
- Subjects :
- medicine.medical_specialty
Medicine (General)
QH301-705.5
Mucopolysaccharidosis
Central nervous system
Inflammation
Disease
Gastroenterology
Gangliosidoses
Lysosomal diseases
Endocrinology
R5-920
Multiple sulfatase deficiency
Internal medicine
GM1-gangliosidosis
Genetics
medicine
GM2-gangliosidosis
Biology (General)
Molecular Biology
Chitotriosidase
Surrogate endpoint
business.industry
medicine.disease
medicine.anatomical_structure
Gaucher
Biomarker (medicine)
medicine.symptom
business
Research Paper
Subjects
Details
- Language :
- English
- ISSN :
- 22144269
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism Reports
- Accession number :
- edsair.doi.dedup.....ee21d6bc3acfd87c82272174919615e7