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Related Concept Videos

Brain Imaging01:14

Brain Imaging

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Brain imaging technologies provide critical insights into both the structure and function of the human brain, enabling medical professionals and researchers to diagnose, study, and treat neurological disorders or psychiatric disorders more effectively.
These technologies include computerized axial tomography (CAT or CT scans), positron-emission tomography (PET scans),  magnetic resonance imaging (MRI),  functional magnetic resonance imaging (fMRI), and Transcranial Magnetic...
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Imaging Transcriptomics of Brain Functional Alterations in MS and Neuromyelitis Optica Spectrum Disorder.

Yuna Li1, Jun Sun1, Zhizheng Zhuo1

  • 1From the Department of Radiology (Yuna Li, J.S., Z.Z., M.G., Y.D., X.X., Y. Liu), Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

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Summary

This study reveals shared and distinct gene signatures linked to brain function changes in Multiple Sclerosis (MS) and Neuromyelitis Optica Spectrum Disorder (NMOSD). These findings illuminate the molecular underpinnings of these neurological conditions.

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Area of Science:

  • Neuroscience
  • Genomics
  • Immunology

Background:

  • Multiple Sclerosis (MS) and Neuromyelitis Optica Spectrum Disorder (NMOSD) exhibit unclear transcriptomic drivers of brain functional alterations.
  • Understanding these signatures is crucial for differentiating and treating these related neuroinflammatory conditions.

Purpose of the Study:

  • To identify and characterize the gene transcriptomic signatures associated with brain functional alterations in MS and NMOSD.
  • To explore shared and specific molecular pathways and cell types involved in disease pathogenesis.

Main Methods:

  • Regional fractional amplitude of low-frequency fluctuation (fALFF) was analyzed in MS, AQP4+ NMOSD, AQP4- NMOSD, and healthy controls.
  • Partial least squares (PLS) regression identified gene transcriptomic signatures linked to fALFF alterations.
  • Enrichment analysis explored biological processes and cell types; validation in an independent cohort.

Main Results:

  • MS and NMOSD showed decreased fALFF in cognitive and deep gray matter regions; NMOSD also had reduced fALFF in visual regions.
  • Shared gene signatures enriched in immune response regulation; specific signatures involved epigenetics (MS), membrane disruption (AQP4+ NMOSD), and leukocyte activation (AQP4- NMOSD).
  • Microglia and astrocytes were key cell types; fALFF-associated genes correlated with disease severity and duration.

Conclusions:

  • Functional brain alterations in MS and NMOSD are associated with distinct yet overlapping transcriptomic signatures.
  • These findings provide insights into the molecular mechanisms driving these neuroinflammatory diseases.