Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 20, Issue 21, Pages -Publisher
MDPI
DOI: 10.3390/ijms20215324
Keywords
brain arteriovenous malformation; somatic mutation; RAS-mitogen-activated protein kinases (MAPK); hereditary hemorrhagic telangiectasia; TGF beta; PDGF-B; PDGFR-B
Funding
- National Institutes of Health [R01 HL128525, R01 NS027713, R01 HL122774]
- Michael Ryan Zodda Foundation
- Department of Defense [PR161205]
- Leducq Foundation (ATTRACT)
- Barrow Neurological Foundation
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Arteriovenous malformations (AVMs) are abnormal connections of vessels that shunt blood directly from arteries into veins. Rupture of brain AVMs (bAVMs) can cause life-threatening intracranial bleeding. Even though the majority of bAVM cases are sporadic without a family history, some cases are familial. Most of the familial cases of bAVMs are associated with a genetic disorder called hereditary hemorrhagic telangiectasia (HHT). The mechanism of bAVM formation is not fully understood. The most important advances in bAVM basic science research is the identification of somatic mutations of genes in RAS-MAPK pathways. However, the mechanisms by which mutations of these genes lead to AVM formation are largely unknown. In this review, we summarized the latest advance in bAVM studies and discussed some pathways that play important roles in bAVM pathogenesis. We also discussed the therapeutic implications of these pathways.
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