Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility using scRNA-Seq and scATAC-Seq.

J Vis Exp

Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine; Department of Psychiatry and Behavioral Science, The Johns Hopkins Hospital; Department of Ophthalmology, The Johns Hopkins Hospital; Department of Neurology, The Johns Hopkins Hospital; Institute for Cell Engineering, Johns Hopkins University School of Medicine; Kavli Neuroscience Discovery Institute, Johns Hopkins University School of Medicine;

Published: March 2021

Similar Publications

Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.

View Article and Find Full Text PDF

Transplantation of derivative retinal organoids from chemically induced pluripotent stem cells restored visual function.

NPJ Regen Med

December 2024

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 100730, Beijing, China.

As an emerging type of pluripotent stem cells, chemically induced pluripotent stem cells (CiPSCs) avoid the risks of genomic disintegration by exogenous DNAs from viruses or plasmids, providing a safer stem cell source. To verify CiPSCs' capacity to differentiate into retinal organoids (ROs), we induced CiPSCs from mouse embryonic fibroblasts by defined small-molecule compounds and successfully differentiated the CiPSCs into three-dimensional ROs, in which all major retinal cell types and retinal genes were in concordance with those in vivo. We transplanted retinal photoreceptors from ROs into the subretinal space of retinal degeneration mouse models and the cells could integrate into the host retina, establish synaptic connections, and significantly improve the visual functions of the murine models.

View Article and Find Full Text PDF

Purpose: The retina contains the highest concentration of the omega 3 fatty acid, docosahexaenoic acid (DHA), in the body. Although epidemiologic studies showed an inverse correlation between the consumption of omega 3 fatty acids and the prevalence of diabetic retinopathy, there are no data showing the effect of diabetes on retinal DHA in humans. In this study, we measured the DHA content of the retina in diabetic and non-diabetic humans as well as mice and determined the effect of diabetes on retinal thickness and function in mice.

View Article and Find Full Text PDF

Mettl3-Mediated m6A Modification is Essential for Visual Function and Retinal Photoreceptor Survival.

Invest Ophthalmol Vis Sci

December 2024

The Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

Purpose: N6-methyladenosine (m6A) modification, one of the most common epigenetic modifications in eukaryotic mRNA, has been shown to play a role in the development and function of the mammalian nervous system by regulating the biological fate of mRNA. METTL3, the catalytically active component of the m6A methyltransferase complex, has been shown to be essential in development of in the retina. However, its role in the mature retina remains elusive.

View Article and Find Full Text PDF

Purpose: This review explores the role of pigment epithelium-derived factor (PEDF) in retinal degenerative and vascular disorders and assesses its potential both as an adjunct to established vascular endothelial growth factor inhibiting treatments for retinal vascular diseases and as a neuroprotective therapeutic agent.

Methods: A comprehensive literature review was conducted, focusing on the neuroprotective and anti-angiogenic properties of PEDF. The review evaluated its effects on retinal health, its dysregulation in ocular disorders, and its therapeutic application in preclinical models.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!