Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration

ABSTRACT: To characterize female aged Efemp1 R345W knock-in (Efemp1ki/ki) mice, a model for Doyne honeycomb retinal dystrophy/malattia leventinese by bulk RNA sequencing We performed differential expression and gene set enrichment analysis analysis using data obtained from RNA-seq of the neural retina and posterior eyecups (whole eye without lens and retina) from 3- to 17-month-old Efemp1+/+ and Efemp1ki/ki mice

ORGANISM(S): Mus musculus

PROVIDER: GSE210492 | GEO | 2022/08/10

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Complement factor B is critical for sub-RPE deposit formation in the Efemp1 R345W mutant mouse model with features of age-related macular degeneration

Project description:This dataset represent supplemental data for publication submitted to Human Molecular Genetics in 2022. Briefly, Efemp1 R345W is a protein misfolding-prone mutation in humans causing Doyne honeycomb retinal dystrophy/Mallatia Leventinese (DHRD/ML), a disease sharing similar clinical pathology with age-related macular degeneration (AMD). Efemp1R345W/R345W knock-in mice (Efemp1ki/ki mice) develop deposits on the basal side of retinal pigment epithelial (RPE) cells, which is complement C3- dependent. We assessed alternative complement pathway component factor B (Cfb) in sub-RPE deposit formation in Efemp1ki/ki mice.

2023-03-11 | PXD035772 | Pride

Extensive Sub-RPE Complement Deposition in a Nonhuman Primate Model of Early Stage Diabetic Retinopathy

Project description:Purpose: This study aims to reveal retinal abnormities in a spontaneous diabetic nonhuman primate (NHP) model and explore the mechanism of featured injuries. Methods: Twenty-eight cynomolgus monkeys were identified to suffer from spontaneous Type 2 diabetes from a colony of more than eight hundred aged monkeys and twenty-six age-matched ones were used as controls. Their blood biochemistry profiles were determined and the retinal changes were examined by multimodal imaging, hematoxylin-eosin (H&E) staining and immunofluorescence. Retinal pigment epithelium (RPE) cells were isolated and determined by RNA-sequencing and computational analyses. Results: Diabetic monkeys were characterized by early vascular and neural damage in the retina and dyslipidemia. The typical acellular capillaries and pericyte ghost were found in the diabetic retina, which also exhibited reduced retinal nerve fiber layer (RNFL) thickness compared to the controls. Of note, distinct sub-RPE drusenoid lesions were extensively observed in these diabetic monkeys and complements deposition including C3 and C5b-9 were accumulated in these lesions. The RNA-seq data of RPE cells showed complement activation, AGE/RAGE activation and 18 inflammatory response at the setting of diabetes. Consistently, the plasma levels of C3 and C4 were also increased in the diabetic monkeys. Conclusions: The spontaneous Type 2 diabetic cynomolgus monkeys featured with early-stage retinopathy including not only typical vascular and neural damage, but also a distinct sub-RPE deposition. The complement activation and metabolic stress of RPE cells in response to hyperglycemia might contribute to the deposition, revealing an unrecognized role of RPE cells in the early-stage pathological process of diabetic retinopathy (DR).

2021-03-31 | GSE160617 | GEO