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Published on: February 10, 2020
Blood platelet RNA enables the detection of multiple sclerosis
Nik Sol1,2, Cyra E Leurs1, Sjors Gjg In 't Veld2,3
1Department of Neurology, Neuroscience Amsterdam, VUmc MS Center Amsterdam, Amsterdam UMC, VU University Medical Center, Amsterdam, The Netherlands.
Background:
In multiple sclerosis (MS), clinical assessment, MRI and cerebrospinal fluid are important in the diagnostic process. However, no blood biomarker has been confirmed as a useful tool in the diagnostic work-up.
Objectives:
Blood platelets contain a rich spliced mRNA repertoire that can alter during megakaryocyte development but also during platelet formation and platelet circulation. In this proof of concept study, we evaluate the diagnostic potential of spliced blood platelet RNA for the detection of MS.
Methods:
We isolated and sequenced platelet RNA of blood samples obtained from 57 MS patients and 66 age- and gender-matched healthy controls (HCs). 60% was used to develop a particle swarm-optimized (PSO) support vector machine classification algorithm. The remaining 40% served as an independent validation series.
Results:
In total, 1249 RNAs with differential spliced junction expression levels were identified between platelets of MS patients as compared to HCs, including EPSTI1, IFI6, and RPS6KA3, in line with reported inflammatory signatures in the blood of MS patients. The RNAs were subsequently used as input for a MS classifier, capable of detecting MS with 80% accuracy in the independent validation series.
Conclusions:
Spliced platelet RNA may enable the blood-based diagnosis of MS, warranting large-scale validation.
Insights
Spliced platelet RNA shows promise as a blood biomarker for multiple sclerosis (MS) diagnosis. This study identified unique RNA profiles in MS patients, achieving 80% accuracy in detecting the disease.
Area of Science:
- Biomarker Discovery
- Molecular Diagnostics
- Neuroimmunology
Background:
- Multiple sclerosis (MS) diagnosis relies on clinical assessment, MRI, and cerebrospinal fluid analysis.
- A validated blood biomarker for MS diagnosis is currently lacking.
- Platelets possess a diverse spliced mRNA repertoire that may reflect disease states.
Purpose of the Study:
- To investigate the diagnostic potential of spliced blood platelet RNA for multiple sclerosis detection.
- To establish a proof-of-concept for a blood-based MS diagnostic tool.
Main Methods:
- Platelet RNA was isolated and sequenced from 57 MS patients and 66 healthy controls.
- A classification algorithm (particle swarm-optimized support vector machine) was developed using 60% of the data.
- The algorithm was validated on an independent set comprising the remaining 40% of samples.
Main Results:
- 1249 differentially spliced junction RNA expression levels were identified between MS patients and healthy controls.
- Key identified RNAs (EPSTI1, IFI6, RPS6KA3) align with known inflammatory signatures in MS.
- The developed classifier achieved 80% accuracy in detecting MS in the independent validation cohort.
Conclusions:
- Spliced platelet RNA represents a potential avenue for blood-based diagnosis of multiple sclerosis.
- Further large-scale validation studies are warranted to confirm these findings.
