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Molecular Biomarkers Affecting Moyamoya Disease
Yong-Kwang Tu1,2, Yao-Ching Fang3
1Taipei Neuroscience Institute, Taipei Medical University, Taipei, Taiwan. yktu@ntu.edu.tw.
Abstract:
Although the pathogenetic pathway of moyamoya disease (MMD) remains unknown, studies have indicated that variations in the RING finger protein RNF 213 is the strongest susceptible gene of MMD. In addition to the polymorphism of this gene, many circulating angiogenetic factors such as growth factors, vascular progenitor cells, inflammatory and immune mediators, angiogenesis related cytokines, as well as circulating proteins promoting intimal hyperplasia, excessive collateral formation, smooth muscle migration and atypical migration may also play critical roles in producing this disease. Identification of these circulating molecules biomarkers may be used for the early detection of this disease. In this chapter, how the hypothesized pathophysiology of these factors affect MMD and the interactive modulation between them are summarized.
Insights
Moyamoya disease (MMD) involves genetic factors like RNF 213 variations and circulating molecules. Identifying these biomarkers could enable early detection of this rare cerebrovascular disorder.
Area of Science:
- Neuroscience
- Genetics
- Vascular Biology
Background:
- Moyamoya disease (MMD) pathogenesis is not fully understood.
- RNF 213 gene variations are strongly associated with MMD susceptibility.
- Circulating factors potentially contribute to MMD development.
Purpose of the Study:
- To summarize the hypothesized pathophysiology of circulating factors in MMD.
- To explore the interactive modulation between these factors in MMD.
- To highlight the potential of circulating biomarkers for early MMD detection.
Main Methods:
- Review of existing literature on MMD genetics and circulating factors.
- Analysis of hypothesized roles of growth factors, progenitor cells, and inflammatory mediators.
- Discussion of proteins involved in intimal hyperplasia and collateral formation.
Main Results:
- RNF 213 polymorphism is a key genetic risk factor for MMD.
- Multiple circulating factors, including angiogenic and inflammatory mediators, are implicated in MMD.
- These factors may influence intimal hyperplasia, collateralization, and smooth muscle cell behavior.
Conclusions:
- Circulating biomarkers hold promise for early MMD diagnosis.
- Understanding the interplay of genetic and circulating factors is crucial for MMD research.
- Further investigation into these pathways could reveal novel therapeutic targets for MMD.
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