Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.

ABSTRACT: Mutations in the Membrane-type frizzled related protein (Mfrp) gene results in an early-onset retinal degeneration associated with retinitis pigmentosa, microphthalmia, optic disc drusen and foveal schisis. In the current study, a previously characterized mouse model of human retinal degeneration carrying homozygous c.498_499insC mutations in Mfrp (Mfrp^KI/KI) was used. Patients carrying this mutation have retinal degeneration at an early age. The model demonstrates subretinal deposits and develops early-onset photoreceptor degeneration. We observed large subretinal deposits in Mfrp^KI/KI mice which were strongly CD68 positive and co-localized with autofluorescent spots. Single cell RNA sequencing of Mfrp^KI/KI mice retinal microglia showed a significantly hig

SUBMITTER: Kumari A 

PROVIDER: S-EPMC9464204 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature