Recent Advances in Basic Research for Brain Arteriovenous Malformation

Document Type

Article

Abstract

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.

Keywords

brain arteriovenous malformation, hereditary hemorrhagic telangiectasia, PDGF-B/PDGFR-B, RAS-mitogen-activated protein kinases (MAPK), somatic mutation, TGFβ

Publication Date

10-25-2019

Publication Title

International journal of molecular sciences

E-ISSN

14220067

Volume

20

Issue

21

PubMed ID

31731545

Digital Object Identifier (DOI)

10.3390/ijms20215324

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