The Identification of Mitochondrial-Related Biomarkers of Ruptured Intracranial Aneurysms Based on Bioinformatics...

Area of Science:

• Biomedical research
• Genomics
• Vascular biology

Background:

• Intracranial aneurysms (IAs) pose significant mortality risks, necessitating identification of rupture-prone cases.
• Understanding the molecular basis of IA rupture is crucial for clinical intervention.

Purpose of the Study:

• To identify mitochondrial-associated genes linked to ruptured intracranial aneurysms (RIAs).
• To discover diagnostic biomarkers and potential therapeutic targets for RIA.

Main Methods:

• Differential gene expression analysis and weighted gene co-expression network analysis (WGCNA) on IA datasets.
• Machine learning for biomarker identification and experimental validation in clinical/animal models.
• Immune infiltration analysis and network construction for mechanistic insights.

Main Results:

• Eight mitochondria-associated genes (MTX1, BCL2A1, BID, UCP2, ME2, VAV1, CYBA, CYBB) identified in RIAs.
• MTX1 emerged as a key diagnostic biomarker, validated in an independent dataset.
• Significant dysregulation of ME2, UCP2, BCL2A1, and CYBA confirmed experimentally; RIA microenvironment is pro-inflammatory and stromal-enriched.

Conclusions:

• Mitochondrial dysfunction plays a role in RIA pathogenesis.
• A panel of mitochondrial genes, particularly MTX1, shows diagnostic potential for RIAs.
• Identified potential therapeutic targets and drugs, offering new strategies for RIA management.