TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.

ABSTRACT:

Background

Mutations in the three-prime repair exonuclease 1 (TREX1) gene have been associated with neurological diseases, including Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL). However, the endogenous expression of TREX1 in human brain has not been studied.

Methods

We produced a rabbit polyclonal antibody (pAb) to TREX1 to characterize TREX1 by Western blotting (WB) of cell lysates from normal controls and subjects carrying an RVCL frame-shift mutation. Dual staining was performed to determine cell types expressing TREX1 in human brain tissue. TREX1 distribution in human brain was further evaluated by immunohistochemical analyses of formalin-fixed, paraffin-embedded samples from normal controls and patients with RVCL and ischemic stroke.

Results

Aft

SUBMITTER: Kothari PH 

PROVIDER: S-EPMC6404532 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature