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Updated: Mar 15, 2026

Cerebrospinal Fluid MicroRNA Profiling Using Quantitative Real Time PCR
Published on: January 22, 2014
Comprehensive evaluation of serum microRNAs as biomarkers in multiple sclerosis
Keren Regev1, Anu Paul1, Brian Healy1
1Ann Romney Center for Neurologic Diseases (K.R., A.P., B.H., F.v.G., M.A.M., R.R., P.K., T.C., H.L.W., R.G.), and Partners MS Center (C.D.-C., T.G., P.N., B.I.G., T.C., H.L.W.), Brigham & Women's Hospital, Harvard Medical School, Boston; and Biostatistics Center (B.H.), Massachusetts General Hospital, Boston.
Objective:
To identify circulating microRNAs (miRNAs) linked to disease stage and disability in multiple sclerosis (MS).
Methods:
Sera from 296 participants including patients with MS, other neurologic diseases (Alzheimer disease and amyotrophic lateral sclerosis), and inflammatory diseases (rheumatoid arthritis and asthma) and healthy controls (HCs) were tested. miRNA profiles were determined using LNA (locked nucleic acid)-based quantitative PCR. Patients with MS were categorized according to disease stage and disability. In the discovery phase, 652 miRNAs were measured in sera from 26 patients with MS and 20 HCs. Following this, significant miRNAs (p < 0.05) from the discovery set were validated using quantitative PCR in 58 patients with MS, 30 HCs, and in 74 samples from other disease controls (Alzheimer disease, amyotrophic lateral sclerosis, asthma, and rheumatoid arthritis).
Results:
We validated 7 miRNAs that differentiate patients with MS from HCs (p < 0.05 in both the discovery and validation phase); miR-320a upregulation was the most significantly changing serum miRNA in patients with MS. We also identified 2 miRNAs linked to disease progression, with miR-27a-3p being the most significant. Ten miRNAs correlated with the Expanded Disability Status Scale of which miR.199a.5p had the strongest correlation with disability. Of the 15 unique miRNAs we identified in the different group comparisons, 12 have previously been reported to be associated with MS but not in serum.
Conclusions:
Our findings identify circulating serum miRNAs as potential biomarkers to diagnose and monitor disease status in MS.
Classification Of Evidence:
This study provides Class III evidence that circulating serum miRNAs can be used as biomarker for MS.
Insights
Researchers identified circulating microRNAs (miRNAs) in serum as potential biomarkers for multiple sclerosis (MS). Specific miRNAs were linked to disease stage, progression, and disability, offering new diagnostic and monitoring tools for MS patients.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
- Identifying reliable biomarkers for MS diagnosis and progression is crucial for effective patient management.
- Circulating microRNAs (miRNAs) are emerging as potential biomarkers due to their stability and role in gene regulation.
Purpose of the Study:
- To identify circulating serum microRNAs (miRNAs) associated with disease stage and disability in multiple sclerosis (MS).
- To evaluate the potential of these miRNAs as diagnostic and monitoring biomarkers for MS.
Main Methods:
- Serum samples were collected from 296 participants, including patients with MS, other neurological/inflammatory diseases, and healthy controls.
- MicroRNA profiling was performed using locked nucleic acid (LNA)-based quantitative PCR.
- Statistical analyses identified significant miRNAs differentiating MS patients from controls and correlating with disease parameters.
Main Results:
- Seven miRNAs were validated as differentiating MS patients from healthy controls, with miR-320a showing significant upregulation.
- Two miRNAs, notably miR-27a-3p, were linked to disease progression.
- Ten miRNAs correlated with disability, with miR.199a.5p showing the strongest association.
Conclusions:
- Circulating serum miRNAs show promise as biomarkers for diagnosing and monitoring multiple sclerosis.
- The identified miRNAs can potentially aid in assessing disease stage, progression, and disability in MS patients.

