Construction and Analysis of Immune Infiltration and Competing Endogenous RNA Network in Moyamoya Disease

Area of Science:

• Neuroscience
• Immunology
• Genetics

Background:

• Moyamoya disease (MMD) is a cerebrovascular disorder causing stroke via progressive intracranial artery stenosis.
• While MMD was historically viewed as genetic, autoimmune factors are increasingly implicated.
• The role of non-coding RNAs (ncRNAs) and their networks in MMD pathogenesis is not well understood.

Purpose of the Study:

• To construct a competitive endogenous RNA (ceRNA) network involving MMD-related ncRNAs.
• To investigate the link between immune dysregulation and vascular changes in MMD.
• To identify potential biomarkers and therapeutic targets for MMD.

Main Methods:

• Bioinformatic analysis of transcriptomic data from MMD and control middle cerebral arteries.
• Construction and validation of a ceRNA network centered on the long non-coding RNA MALAT1.
• Immune deconvolution analysis to assess cellular composition changes in MMD arteries.

Main Results:

• Enrichment of innate immune pathways (antigen processing, macrophage activation) in MMD tissue.
• A MALAT1-centered ceRNA network with 15 core mRNA targets was identified.
• A classifier based on MALAT1-related genes achieved 0.869 AUC for MMD patient discrimination.
• MMD arteries showed increased microvascular endothelial cells and decreased T cells (CD4+ memory, regulatory).
• MALAT1 network gene expression correlated with altered immune cell populations.

Conclusions:

• A MALAT1-driven ceRNA network connects immune dysregulation to vascular pathology in MMD.
• This network highlights the role of ncRNAs in MMD pathogenesis.
• MALAT1 emerges as a potential diagnostic biomarker and therapeutic target for MMD.