Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.

ABSTRACT: Late-onset retinal degeneration (L-ORD) is an autosomal dominant macular degeneration characterized by the formation of sub-retinal pigment epithelium (RPE) deposits and neuroretinal atrophy. L-ORD results from mutations in the C1q-tumor necrosis factor-5 protein (CTRP5), encoded by the CTRP5/C1QTNF5 gene. To understand the mechanism underlying L-ORD pathology, we used a human cDNA library yeast two-hybrid screen to identify interacting partners of CTRP5. Additionally, we analyzed the Bruch's membrane/choroid (BM-Ch) from wild-type (Wt), heterozygous S163R Ctrp5 mutation knock-in (Ctrp5^S163R/wt ), and homozygous knock-in (Ctrp5^S163R/S163R ) mice using mass spectrometry. Both approaches showed an association between CTRP5 and HTRA1 via its C-terminal PDZ-binding motif,

SUBMITTER: Chekuri A 

PROVIDER: S-EPMC6826137 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature