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From Gene Discovery to Stroke Risk: C5orf24's Pivotal Role Uncovered.

Ran Gao1,2, Yaqi Xu1,2, Min Zhang1,2

  • 1Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, No.10 Xitoutiao, You An Men, Beijing, 100069, China.

Molecular Neurobiology
|March 4, 2025
PubMed
Summary

Elevated C5orf24 levels are linked to reduced stroke risk, with inflammation potentially playing a key role. This finding suggests C5orf24 as a potential therapeutic target for stroke treatment.

Keywords:
B230219D22RikC5orf24IL-1βIL-6Inflammatory factorsMendelian randomizationStrokeVascular diseases

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Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Stroke is a major global cause of death and disability.
  • Understanding stroke mechanisms and risk factors is critical for prevention and treatment.
  • Microglial cells play a significant role in neuroinflammation and stroke pathology.

Purpose of the Study:

  • To investigate the role of the gene C5orf24 (and its mouse homolog B230219D22Rik) in stroke.
  • To determine the causal association between C5orf24 and stroke risk.
  • To explore the functional impact of C5orf24 on microglial inflammatory responses.

Main Methods:

  • Utilized NCBI database for gene identification.
  • Employed quantitative real-time PCR, ELISA, and Western blot for expression analysis.
  • Conducted Mendelian randomization (MR) analysis to assess causal relationships.
  • Used an in vitro oxygen-glucose deprivation/reperfusion (OGD/R) model with human microglial cells (HMC3).

Main Results:

  • Reduced expression of B230219D22Rik and C5orf24 was observed in stroke models.
  • MR analysis revealed a significant causal link between higher C5orf24 levels and decreased stroke risk (OR=0.68).
  • Overexpression of C5orf24 in an in vitro stroke model inhibited the release of inflammatory factors IL-1β and IL-6.

Conclusions:

  • Elevated C5orf24 levels are causally associated with a reduced risk of stroke.
  • Inflammation appears to be a mediating factor in the C5orf24-stroke relationship.
  • C5orf24 represents a promising therapeutic target for stroke treatment.