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Updated: May 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

An Overview of Genetics of Moyamoya: Beyond RNF213 Gene

Giovanni Sorte1, Mariagiovanna Cantone2, Rita Bella1

  • 1Department of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", University of Catania, 95124 Catania, Italy.

International Journal of Molecular Sciences
|May 27, 2026
PubMed

Insights

Moyamoya angiopathy (MMA) is a rare cerebrovascular disease. This review explores MMA

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Moyamoya angiopathy (MMA) is a progressive cerebrovascular condition.
  • It involves stenosis of terminal internal carotid arteries, leading to fragile collateral vessels.
  • MMA is classified as Moyamoya Disease (MMD) or Moyamoya Syndrome (MMS) based on etiology.

Purpose of the Study:

  • To provide a comprehensive overview of the genetic architecture of the entire MMA spectrum.
  • To explore genetic loci beyond the known RNF213 association.
  • To analyze genetic drivers in Moyamoya Syndrome and syndromic forms of MMA.

Main Methods:

  • Literature review of genetic studies on Moyamoya angiopathy.
  • Analysis of genes involved in vascular smooth muscle cell function, TGF-β signaling, and DNA repair.
  • Examination of genetic bases for syndromic MMA (e.g., neurofibromatosis type 1, trisomy 21, RASopathies).

Main Results:

  • RNF213 is a major susceptibility locus for MMD in East Asians but doesn't explain all cases.
  • Genes like ACTA2 and MYH11 are implicated in Moyamoya Syndrome.
  • Genetic factors contributing to syndromic MMA forms are identified.

Conclusions:

  • The genetic landscape of MMA is complex and extends beyond RNF213.
  • Understanding diverse genetic drivers is vital for diagnosis and treatment.
  • Targeted molecular therapies may be developed based on genetic insights.
Keywords:
ACTA2Moyamoya syndromeRNF213molecular pathogenesisrare diseasesvascular genetics

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