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Investigating the Genetic and Inflammatory Mechanisms Behind Moyamoya Disease: A Literature Review

Ananth Kashibhatla1, Idiberto José Zotarelli-Filho2,3, Sanjeev Sreenivasan1

  • 1Department of Neurosurgery, RWJMS, Rutgers University, New Brunswick, NJ 08901, USA.

Current Neurovascular Research
|June 1, 2026
PubMed
Abstract

Insights

Moyamoya Disease (MMD) involves complex genetic and inflammatory factors, with the RNF213 gene

Area of Science:

  • * Neurology and Genetics: Investigating the intricate interplay of genetic mutations and inflammatory pathways in Moyamoya Disease (MMD).
  • * Vascular Biology: Understanding the molecular mechanisms underlying abnormal blood vessel development and maintenance in MMD.
  • * Biomarker Discovery: Identifying key inflammatory markers and genetic variants associated with MMD etiology and progression.

Background:

  • * Moyamoya Disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of intracranial arteries.
  • * Existing research highlights diverse MMD components, necessitating a holistic approach to understand its genetic and inflammatory underpinnings.
  • * A comprehensive understanding is crucial for developing effective therapeutic interventions.

Purpose of the Study:

  • * To conduct a comprehensive literature review on the genetic and inflammatory components of Moyamoya Disease (MMD).
  • * To synthesize current knowledge on MMD etiology, focusing on genetic predispositions and inflammatory pathways.
  • * To identify research gaps and inform future therapeutic strategies for MMD.

Main Methods:

  • * Systematic literature review of PubMed, Embase, and Cochrane Library databases up to January 2024.
  • * Inclusion criteria: Peer-reviewed articles on MMD with direct statistical data on genetic and inflammatory markers.
  • * Keywords: "Moyamoya Disease genetics," "inflammatory markers," "Moyamoya Disease," "RNF213 gene."

Main Results:

  • * Over 30 studies involving >1500 patients confirm RNF213 gene involvement in MMD, particularly the p.R4810K variant in East Asian populations, linked to vascular development issues.
  • * Animal models (Zebrafish, Murine) show correlations with p.R4810K and highlight roles for ACTA2 and NEO1 genes in MMD.
  • * Other genetic factors, including the Human Leukocyte Antigen (HLA) system and Smooth Muscle Cells (SMC), contribute to MMD's complexity.

Conclusions:

  • * MMD pathogenesis involves a complex interplay between genetic factors, notably the RNF213 p.R4810K variant in East Asians, and inflammatory mechanisms.
  • * The interconnectedness of genetic and inflammatory pathways offers new perspectives for MMD treatment.
  • * Future research should focus on multimodal treatment plans addressing the evolving genetic and inflammatory aspects of MMD.
Keywords:
Moyamoya diseasegenetic predispositionhuman leukocyte antigeninflammatory pathwayspotential therapeutic targetssmooth muscle cells.

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