多発性硬化症の新規診断マーカーを発見(Diagnostic markers for multiple sclerosis discovered)

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2026-02-26 マックス・プランク研究所

マックス・プランク生化学研究所などの研究チームは、多発性硬化症(MS)の新たな診断マーカーを脳脊髄液(CSF)中に発見した。高感度プロテオミクス解析により、MS患者では特定のタンパク質群が特徴的に増減しており、従来法よりも早期かつ正確な診断に役立つ可能性が示された。これらの分子は炎症反応や神経変性過程と関連し、疾患活動性の評価や個別化治療の指標にもなり得る。研究はMSの病態理解を深め、将来的な診断精度向上と治療戦略最適化に貢献すると期待される。

多発性硬化症の新規診断マーカーを発見(Diagnostic markers for multiple sclerosis discovered)
In addition to brain imaging, laboratory analysis of cerebrospinal fluid is important for the diagnosis of multiple sclerosis (MS). In this study, proteomic analysis of this fluid has revealed a set of markers that better distinguishes MS  from related inflammatory diseases in subjects that are negative for oligoclonal bands, a typical marker for MS.  © TUM, adapted by MPI of Biochemistry

<関連情報>

神経疾患を対象とした大規模プロテオミクスにより、多発性硬化症のバイオマーカーパネルと標的が明らかになった Large-scale proteomics across neurological disorders uncovers biomarker panel and targets in multiple sclerosis

Jakob Maximilian Bader ∙ Christine Makarov ∙ Sabrina Richter ∙ … ∙ Christiane Gasperi, ∙ Bernhard Hemmer ∙ Matthias Mann
Cell  Published:February 25, 2026
DOI:https://doi.org/10.1016/j.cell.2026.01.017

Highlights

  • CSF proteomics of 5,000 samples across neurological disorders quantifies 1,500 proteins per sample
  • Dominant signatures for blood-CSF barrier impairment, age, and sex
  • CSF proteome-based donor staging correlates with MS disability and progression
  • Targeted assay for 22 CSF markers aiding differential diagnosis of OCB-negative MS

Summary

Cerebrospinal fluid (CSF) is central to neurological diagnostics, yet biomarkers are lacking for many clinical needs. To enable its large-scale proteomic characterization, we developed a high-throughput mass spectrometry workflow quantifying approximately 1,500 proteins per CSF sample across 5,000 individuals, covering a spectrum of neurological disorders. This revealed proteomic alterations associated with blood-CSF barrier impairment, age, and sex, enabling deconvolution of shared and disease-specific signatures. We then focused on multiple sclerosis (MS), using an improved analytical technology that quantified 2,100 proteins per sample. From these data, we derived a 22-protein panel that distinguished MS from related inflammatory diseases and outperformed established markers in challenging cases. A targeted mass spectrometry assay using isotope-labeled standards validated this panel in an independent cohort, offering a clinically compatible format. Additionally, we highlight proteins of therapeutic interest and demonstrate proteome-based staging of individuals along the relapsing-progressive MS spectrum, which correlates with clinical outcomes.

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