Simplex cerebral cavernous malformations with MAP3K3 mutation have distinct clinical characteristics.

ABSTRACT:

Objectives

To investigate the clinical characteristics of cerebral cavernous malformations (CCMs) with MAP3K3 somatic mutation.

Methods

We performed a retrospective review of our CCMs database between May 2017 and December 2019. The patients with simplex CCMs identified to harbor a MAP3K3 or CCM gene somatic mutation were included. Clinical characteristics were recorded. Univariate and multivariate logistic analyses were used to assess the risk factors associated with hemorrhage events of CCMs. To explore the underlying mechanism, we transfected MEKK3-I441M-overexpressing and CCM2-knockdown lentiviruses into human umbilical vein endothelial cells (HUVECs) and investigated thrombomodulin (TM) and tight junctions (TJs) protein expression by western blottin

SUBMITTER: Huo R 

PROVIDER: S-EPMC9458974 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature