Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.
Brownjohn PW, , Smith J, , Solanki R, Lohmann E, , Houlden H, , Hardy J,, Dietmann S,, Livesey FJ.
This paper describes a robust method to derive microglia from human pluripotent stem calls. These microglia were used to study the consequences of missence mutations of the TREM2 receptor implicated in frontotemporal dementia-like syndrome and Nasu- Hakola disease (NHD). The work demonstrated there is a complex and subtle effect of missense TREM2 mutations on microglial function that could be consistent with the delayed clinical symptoms seen in FTD-like syndrome and NHD.