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Review of treatment and therapeutic targets in brain arteriovenous malformation
- Source :
- Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, vol 41, iss 12, J Cereb Blood Flow Metab
- Publication Year :
- 2021
- Publisher :
- eScholarship, University of California, 2021.
-
Abstract
- Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase ( MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.
- Subjects :
- Intracranial Arteriovenous Malformations
Somatic cell
MAP Kinase Signaling System
Clinical Sciences
Viral Oncogene
Cardiorespiratory Medicine and Haematology
Bioinformatics
medicine.disease_cause
therapeutic targets
Pathogenesis
Proto-Oncogene Proteins p21(ras)
03 medical and health sciences
0302 clinical medicine
Genetics
Medicine
Animals
Humans
2.1 Biological and endogenous factors
In patient
mouse models
Aetiology
Review Articles
Gene
De novo mutations
030304 developmental biology
Pediatric
0303 health sciences
Neurology & Neurosurgery
business.industry
Brain arteriovenous malformation
Neurosciences
Arteriovenous malformation
medicine.disease
signaling pathways
Stroke
Neurology
Mutation
somatic mutations
Neurology (clinical)
KRAS
Cardiology and Cardiovascular Medicine
business
Intracranial Hemorrhages
030217 neurology & neurosurgery
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, vol 41, iss 12, J Cereb Blood Flow Metab
- Accession number :
- edsair.doi.dedup.....ebade232220477672d0d4d20c370c878