Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration

Abstract In various ocular diseases, retinal degeneration (RD) is a clinical symptom that can lead to irreversible vision loss. These diseases include age-related macular degeneration (AMD) and retinitis pigmentosa (RP). Retinal degeneration describes a process during which the retina deteriorates d...

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Main Authors: Aaron Schroers, Andreas Neueder, Isabel Massoudy, Andrea E. Dillinger, Süleyman Ergün, Barbara M. Braunger, Anja Schlecht
Format: Article
Language:English
Published: Nature Publishing Group 2025-08-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-025-02685-5
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author Aaron Schroers
Andreas Neueder
Isabel Massoudy
Andrea E. Dillinger
Süleyman Ergün
Barbara M. Braunger
Anja Schlecht
author_facet Aaron Schroers
Andreas Neueder
Isabel Massoudy
Andrea E. Dillinger
Süleyman Ergün
Barbara M. Braunger
Anja Schlecht
author_sort Aaron Schroers
collection DOAJ
description Abstract In various ocular diseases, retinal degeneration (RD) is a clinical symptom that can lead to irreversible vision loss. These diseases include age-related macular degeneration (AMD) and retinitis pigmentosa (RP). Retinal degeneration describes a process during which the retina deteriorates due to the gradual death of photoreceptor cells. Although extensive research has been pursued to identify the underlying pathomechanisms, the precise molecular mechanisms that leads to photoreceptor death remains unclear. In this study, we combined the mouse model of light-induced photoreceptor degeneration with single-cell RNA sequencing to decipher the transcriptional response of degenerating photoreceptor cells. We additionally performed pseudotime analysis of gene expression changes for both the control and light-damaged photoreceptor clusters to analyze the extent of degeneration following a virtual trajectory of severeness. We found a transcriptional heterogeneity of rod photoreceptors in both control and degenerative conditions, and mapped several rod clusters which strongly differ in their transcriptional profile. We defined one of these clusters as the predominant disease-associated rod cluster, containing the most severely damaged rod cells. Pseudotime analysis demonstrated a strong regulation of TGFβ signaling and the RNA-induced silencing complex (RISC) in light-damaged photoreceptors suggesting a pivotal role of these mediators in retinal degeneration.
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spelling doaj-art-c7be3bd95b5c4b2aaa8ac53a15ec15ac2025-08-20T03:04:17ZengNature Publishing GroupCell Death Discovery2058-77162025-08-0111111110.1038/s41420-025-02685-5Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degenerationAaron Schroers0Andreas Neueder1Isabel Massoudy2Andrea E. Dillinger3Süleyman Ergün4Barbara M. Braunger5Anja Schlecht6Institute of Anatomy and Cell Biology, Julius-Maximilians-University WuerzburgCenter for Molecular Neurobiology Hamburg, University Clinic Hamburg-EppendorfInstitute of Anatomy and Cell Biology, Julius-Maximilians-University WuerzburgInstitute of Neuroanatomy, University Medical Center Hamburg-EppendorfInstitute of Anatomy and Cell Biology, Julius-Maximilians-University WuerzburgInstitute of Anatomy and Cell Biology, Julius-Maximilians-University WuerzburgInstitute of Anatomy and Cell Biology, Julius-Maximilians-University WuerzburgAbstract In various ocular diseases, retinal degeneration (RD) is a clinical symptom that can lead to irreversible vision loss. These diseases include age-related macular degeneration (AMD) and retinitis pigmentosa (RP). Retinal degeneration describes a process during which the retina deteriorates due to the gradual death of photoreceptor cells. Although extensive research has been pursued to identify the underlying pathomechanisms, the precise molecular mechanisms that leads to photoreceptor death remains unclear. In this study, we combined the mouse model of light-induced photoreceptor degeneration with single-cell RNA sequencing to decipher the transcriptional response of degenerating photoreceptor cells. We additionally performed pseudotime analysis of gene expression changes for both the control and light-damaged photoreceptor clusters to analyze the extent of degeneration following a virtual trajectory of severeness. We found a transcriptional heterogeneity of rod photoreceptors in both control and degenerative conditions, and mapped several rod clusters which strongly differ in their transcriptional profile. We defined one of these clusters as the predominant disease-associated rod cluster, containing the most severely damaged rod cells. Pseudotime analysis demonstrated a strong regulation of TGFβ signaling and the RNA-induced silencing complex (RISC) in light-damaged photoreceptors suggesting a pivotal role of these mediators in retinal degeneration.https://doi.org/10.1038/s41420-025-02685-5
spellingShingle Aaron Schroers
Andreas Neueder
Isabel Massoudy
Andrea E. Dillinger
Süleyman Ergün
Barbara M. Braunger
Anja Schlecht
Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
Cell Death Discovery
title Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
title_full Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
title_fullStr Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
title_full_unstemmed Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
title_short Illuminating photoreceptors: TGFβ signaling modulates the severeness of retinal degeneration
title_sort illuminating photoreceptors tgfβ signaling modulates the severeness of retinal degeneration
url https://doi.org/10.1038/s41420-025-02685-5
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