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Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1
Elina Makino1, Helen Klodnitsky2, John Leonard3
1Drug Discovery, R&D, Sanofi, Waltham, MA, 02451, USA. elina.makino@sanofi.com.
Scientific Reports
|March 1, 2018
Summary
A new liquid chromatography-mass spectrometry (LC-MS) method accurately identifies mucopolysaccharidoses (MPS) type I biomarkers. This sensitive technique aids in diagnosing and monitoring MPS diseases, improving patient care.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Lysosomal storage diseases, such as mucopolysaccharidoses (MPS), arise from enzyme deficiencies causing harmful GAG accumulation.
- Current diagnostic methods for MPS lack sensitivity and high-throughput capabilities.
- Accurate diagnosis and monitoring are crucial for managing progressive organ dysfunction in MPS.
Purpose of the Study:
- To develop and validate a sensitive LC-MS method for identifying and quantifying MPS type I biomarkers.
- To establish a method requiring minimal sample preparation for efficient analysis.
- To assess the clinical relevance of identified biomarkers in MPS I patients.
Main Methods:
- Utilized liquid chromatography-mass spectrometry (LC-MS) with accurate metabolite mass analysis.
- Analyzed urine, plasma, and tissue extracts from MPS I mouse models and human patients.
- Compared biomarker levels in untreated MPS I subjects versus those receiving enzyme replacement therapy.
Main Results:
- Identified 225 LC-MS features significantly enriched in MPS I samples (>1000-fold).
- Detected several trisaccharide biomarkers with over 10,000-fold elevation in MPS I.
- Confirmed the presence and changes of these biomarkers in human MPS I patient samples (urine, plasma, CSF).
Conclusions:
- The developed LC-MS method offers a sensitive and efficient approach for MPS type I biomarker discovery and quantification.
- Identified biomarkers demonstrate clinical relevance for diagnosing and monitoring MPS I.
- This method holds potential for improving diagnostic accuracy and therapeutic monitoring in MPS patients.
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