Journal
STROKE
Volume 53, Issue 1, Pages 279-289Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/STROKEAHA.121.035654
Keywords
arteriovenous malformations; biomarkers; microRNAs; therapeutics; vascular malformations
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Funding
- Indian Council of Medical Research (ICMR) [54/03/2019-HUM/BMS]
- Science and Engineering Research Board (SERB), Department of Science and Technology, Government of India [CRG/2020/002178/IBS]
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Vascular malformations of the brain are abnormal developments of blood vessels that can cause hemorrhages and neurological damage. They are often asymptomatic and detected late in disease progression. Technological advances in high-throughput omics platforms have revitalized research in this field, leading to the discovery of new biomarkers and therapeutic targets, as well as enhancing understanding of the etiopathogenesis of these malformations.
Vascular malformations of the brain (VMB) comprise abnormal development of blood vessels. A small fraction of VMBs causes hemorrhages with neurological morbidity and risk of mortality in patients. Most often, they are symptomatically silent and are detected at advanced stages of disease progression. The most common forms of VMBs are arteriovenous and cavernous malformations in the brain. Radiopathological features of these diseases are complex with high phenotypic variability. Early detection of these malformations followed by preclusion of severe neurological deficits such as hemorrhage and stroke is crucial in the clinical management of patients with VMBs. The technological advances in high-throughput omics platforms have currently infused a zest in translational research in VMBs. Besides finding novel biomarkers and therapeutic targets, these studies have withal contributed significantly to the understanding of the etiopathogenesis of VMBs. Here we discuss the recent advances in predictive and prognostic biomarker research in sporadic and familial arteriovenous malformations as well as cerebral cavernous malformations. Furthermore, we analyze the clinical applicability of protein and noncoding RNA-based molecular-targeted therapies which may have a potentially key role in disease management.
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