Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.

ABSTRACT:

Background

Recent Genome Wide Association Studies (GWAS) have identified novel rare coding variants in immune genes associated with late onset Alzheimer's disease (LOAD). Amongst these, a polymorphism in phospholipase C-gamma 2 (PLCG2) P522R has been reported to be protective against LOAD. PLC enzymes are key elements in signal transmission networks and are potentially druggable targets. PLCG2 is highly expressed in the hematopoietic system. Hypermorphic mutations in PLCG2 in humans have been reported to cause autoinflammation and immune disorders, suggesting a key role for this enzyme in the regulation of immune cell function.

Methods

We assessed PLCG2 distribution in human and mouse brain tissue via immunohistochemistry and in situ hybridization. We transfected heterologou

SUBMITTER: Magno L 

PROVIDER: S-EPMC6359863 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature