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Moyamoya disease: diagnosis and interventions
Masafumi Ihara1, Yumi Yamamoto2, Yorito Hattori1
1Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan.
The Lancet. Neurology
|May 23, 2022
Summary
Moyamoya disease, a rare stroke cause, is linked to the RNF213 gene, especially in East Asians. Understanding genetic and environmental factors is key to developing new treatments for this progressive condition.
Area of Science:
- Genetics
- Neurology
- Vascular Biology
Background:
- Moyamoya disease is a rare cerebrovascular disorder characterized by progressive stenosis of the internal carotid arteries and development of compensatory collateral vessels.
- The RNF213 gene, encoding an E3 ubiquitin ligase, is identified as the primary susceptibility gene for moyamoya disease in East Asian populations.
Purpose of the Study:
- To explore the genetic underpinnings of moyamoya disease, focusing on the role of RNF213 variants.
- To investigate the influence of genetic and environmental factors on moyamoya angiopathy pathogenesis and prevalence disparities.
- To identify potential therapeutic targets for moyamoya disease.
Main Methods:
- Genetic association studies identifying RNF213 as a major susceptibility gene.
- Analysis of RNF213 variant frequencies (Arg4810Lys and non-Arg4810Lys) across different ethnicities.
- Review of monogenic moyamoya syndromes and associated genetic pathways.
Main Results:
- The Arg4810Lys variant of RNF213 is strongly associated with moyamoya disease, particularly in East Asians.
- Lower penetrance of the Arg4810Lys variant suggests interaction with other genetic or environmental factors.
- Less common non-Arg4810Lys RNF213 variants are found in Caucasian populations, correlating with lower disease prevalence.
Conclusions:
- RNF213 is a critical gene in moyamoya disease pathogenesis, with specific variants influencing disease risk and prevalence.
- Further research into the interplay of genetic and environmental factors is crucial for understanding moyamoya angiopathy.
- Elucidating these factors may lead to novel treatment strategies for moyamoya disease.
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