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Updated: Jun 3, 2025
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Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
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Utilizing metabolomic profiling as a supportive diagnostic tool for radiologically isolated syndrome
Güllü Tarhan1, Saime Füsun Domaç1, Şahabettin Selek2
1Erenköy Mental and Nervous Diseases Hospital, Neurology, Turkey.
Multiple Sclerosis and Related Disorders
|January 7, 2025
Summary
Metabolomic profiling reveals distinct differences in body fluid biomarkers between Radiologically Isolated Syndrome (RIS) and Multiple Sclerosis (MS) patients. These findings support using Nuclear Magnetic Resonance spectroscopy for early MS diagnosis and suggest RIS may be a subtype of MS.
Area of Science:
- Neuroscience
- Biochemistry
- Medical Diagnostics
Background:
- Radiologically Isolated Syndrome (RIS) presents MRI abnormalities suggestive of Multiple Sclerosis (MS) without clinical symptoms.
- Early diagnosis and understanding of RIS progression to MS are critical.
- Biomarker discovery is essential for differentiating RIS and predicting MS development.
Purpose of the Study:
- To investigate metabolomic profiles of body fluids in patients with pre-diagnosis of RIS or MS.
- To identify potential biomarkers for early diagnosis and differentiation between RIS and MS.
- To compare metabolomic data between RIS, MS, and healthy controls.
Main Methods:
- Collected cerebrospinal fluid (CSF), serum, and urine from 63 patients (30 RIS, 33 MS) and urine/blood from 30 healthy controls.
- Utilized Nuclear Magnetic Resonance spectroscopy (NMRS) for metabolomic profiling of body fluids.
- Applied multivariate statistical analyses including Principal Component Analysis (PCA) and Partial Least Squares Discriminant Analysis (PLS-DA) using MetaboAnalyst R.
Main Results:
- Significant differences in CSF, serum, and urine metabolite levels were observed between MS and RIS groups (p ≤ 0.05).
- Specific elevated metabolites in MS patients included lactate, creatine phosphate, pyruvate (CSF), hydroxyvalerate, xylitol, agmatine (serum), and threonine, creatine, cystine, 2-aminobutyrate, ascorbic acid (urine).
- Enrichment analysis of RIS CSF samples showed high consistency with MS disease patterns, though PCA and PLS-DA showed limited differentiation between RIS and MS groups.
Conclusions:
- Metabolomic profiling, particularly of CSF using NMRS, shows promise for distinguishing RIS from MS.
- Collective evaluation of multiple biomarkers is more effective than relying on single markers for diagnosis.
- Findings suggest RIS patients may represent a distinct subtype of MS, warranting further investigation and potential integration into diagnostic criteria.
