期刊
CEREBROVASCULAR DISEASES
卷 41, 期 3-4, 页码 105-118出版社
KARGER
DOI: 10.1159/000442298
关键词
Moyamoya disease; Pathophysiology; Angiogenesis; Endothelial progenitor cells; Genetics
资金
- Reta Lila Weston Trust for Medical Research
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Dutch Brain Foundation [2012(1)-179]
- Dutch Brain Foundation (Christine Bader Fund Irene Children's Hospital)
- Tutein Nolthenius Oldenhof Fund
- Johanna Children Fund
- Dutch Heart Foundation [2012T077]
- ZonMw [015008048]
Background: The pathogenesis of moyamoya disease (MMD) is still unknown. The detection of inflammatory molecules such as cytokines, chemokines and growth factors in MMD patients' biological fluids supports the hypothesis that an abnormal angiogenesis is implicated in MMD pathogenesis. However, it is unclear whether these anomalies are the consequences of the disease or rather causal factors as well as these mechanisms remain insufficient to explain the pathophysiology of MMD. The presence of a family history in about 9-15% of Asian patients, the highly variable incidence rate between different ethnic and sex groups and the age of onset support the role of genetic factors in MMD pathogenesis. However, although some genetic loci have been associated with MMD, few of them have been replicated in independent series. Recently, RNF213 gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from RNF213 mutations to MMD clinical features are still unknown. Summary: The research on pathogenic mechanism of MMD is in its infancy. MMD is probably a complex and heterogeneous disorder, including different phenotypes and genotypes, in which more than a single factor is implicated. Key Message: Since the diagnosis of MMD is rapidly increasing worldwide, the development of more efficient stratifying risk systems, including both clinical but also biological drivers became imperative to improve our ability of predict prognosis and to develop mechanism-tailored interventions. (C) 2016 S. Karger AG, Basel
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