Postzygotic mosaicism in cerebral cavernous malformation.

ABSTRACT:

Background

Cerebral cavernous malformations (CCMs) can cause severe neurological morbidity but our understanding of the mechanisms that drive CCM formation and growth is still incomplete. Recent experimental data suggest that dysfunctional CCM3-deficient endothelial cell clones form cavernous lesions in conjunction with normal endothelial cells.

Objective

In this study, we addressed the question whether endothelial cell mosaicism can be found in human cavernous tissue of CCM1 germline mutation carriers.

Methods and results

Bringing together single-molecule molecular inversion probes in an ultra-sensitive sequencing approach with immunostaining to visualise the lack of CCM1 protein at single cell resolution, we identified a novel late postzygotic CCM1 los

SUBMITTER: Rath M 

PROVIDER: S-EPMC7042965 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature