PRLΔE1, a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while PRLΔE1 expression in rods is not associated with the initial phase of disease characterized by acute photoreceptor cell death, it is associated with the protracted phase of slow cell loss. Restoration of photoreceptors to a healthy state by gene-specific replacement therapy of individual IRDs successfully suppresses PRLΔE1 expression. Moreover, short-term PRLΔE1 silencing using shRNA results in preservation of outer nuclear layer thickness, suggesting PRLΔE1 drives retinal disease. However, longer-term observations reveal off-target toxic effects of the PRLΔE1 shRNA, precluding determination of its full therapeutic potential. Future research efforts aimed at enhancing the safety and specificity of PRLΔE1-targeting strategies may identify a potential universal intervention strategy for sustaining photoreceptors during the prolonged phase of multiple IRDs.
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http://dx.doi.org/10.1038/s41419-024-07070-1 | DOI Listing |
Hum Mol Genet
January 2025
Department of Ophthalmology, Baylor College of Medicine, 6565 Fannin St, NC205, Houston, TX 77030 United States.
Human diseases with similar phenotypes can be interconnected through shared biological pathways, genes, or molecular mechanisms. Inherited retinal diseases (IRDs) cause photoreceptor dysfunction due to mutations in approximately 300 genes, affecting visual transduction, photoreceptor morphogenesis, and transcription factors, suggesting common pathobiological mechanisms. This study examined the functional relationship between known IRDs genes by integrating binding sites and gene expression data from the key photoreceptor transcription factors (TFs), Crx and Nrl.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA.
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses a Cas9-nickase (nCas9) fused to a reverse transcriptase (RT) as an editor and a PE guide RNA (pegRNA), which introduces the desired edit with great precision without creating double-strand breaks (DSBs).
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
UPMC Eye Centre and Choroidal Analysis and Research (CAR) Lab, University of Pittsburgh, Pittsburgh, PA 15213, USA.
: Inherited retinal diseases (IRDs) are a genetically complex group of disorders, usually resulting in progressive vision loss due to retinal degeneration. Traditional imaging methods help in structural assessments, but limitations exist in early functional cellular-level detection that are crucial for guiding new therapies. : This review includes a systematic search of PubMed and Google Scholar for studies on advanced imaging techniques for IRDs.
View Article and Find Full Text PDFJ Neurosci
January 2025
Department of Psychology, 450 Jane Stanford Way, Stanford University, Stanford, CA, USA.
Immaturities exist at multiple levels of the developing human visual pathway, starting with immaturities in photon efficiency and spatial sampling in the retina and on through immaturities in early and later stages of cortical processing. Here we use Steady-State Visual Evoked Potentials (SSVEPs) and controlled visual stimuli to determine the degree to which sensitivity to horizontal retinal disparity is limited by the visibility of the monocular half-images, the ability to encode absolute disparity or the ability to encode relative disparity. Responses were recorded from male and female human participants at average ages of 5.
View Article and Find Full Text PDFCells
January 2025
Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Ave., Cleveland, OH 44106, USA.
Retinitis pigmentosa (RP) is a hereditary disease characterized by progressive vision loss ultimately leading to blindness. This condition is initiated by mutations in genes expressed in retinal cells, resulting in the degeneration of rod photoreceptors, which is subsequently followed by the loss of cone photoreceptors. Mutations in various genes expressed in the retina are associated with RP.
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