A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model

Abstract Background Alpha-synuclein (αSyn) is a major player in the pathophysiology of synucleinopathies, which include Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. To date, there is no disease-modifying therapy available for these synucleinopathies. Furthermore, the...

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Main Authors: Matthias Höllerhage, Linghan Duan, Oscar Wing Ho Chua, Claudia Moebius, Svenja H. Bothe, Kristina Losse, Rebecca Kotzur, Kristina Lau, Franziska Hopfner, Franziska Richter, Christian Wahl-Schott, Marc Bickle, Günter U. Höglinger
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Translational Neurodegeneration
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Online Access:https://doi.org/10.1186/s40035-025-00486-5
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author Matthias Höllerhage
Linghan Duan
Oscar Wing Ho Chua
Claudia Moebius
Svenja H. Bothe
Kristina Losse
Rebecca Kotzur
Kristina Lau
Franziska Hopfner
Franziska Richter
Christian Wahl-Schott
Marc Bickle
Günter U. Höglinger
author_facet Matthias Höllerhage
Linghan Duan
Oscar Wing Ho Chua
Claudia Moebius
Svenja H. Bothe
Kristina Losse
Rebecca Kotzur
Kristina Lau
Franziska Hopfner
Franziska Richter
Christian Wahl-Schott
Marc Bickle
Günter U. Höglinger
author_sort Matthias Höllerhage
collection DOAJ
description Abstract Background Alpha-synuclein (αSyn) is a major player in the pathophysiology of synucleinopathies, which include Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. To date, there is no disease-modifying therapy available for these synucleinopathies. Furthermore, the intracellular mechanisms by which αSyn confers toxicity are not yet fully understood. Therefore, it is of utmost importance to investigate the pathophysiology of αSyn-induced toxicity in order to identify novel molecular targets for the development of disease-modifying therapies. Methods We performed the first genome-wide siRNA modifier screening in a human postmitotic neuronal cell model using αSyn-induced toxicity as a read-out. In a multi-step approach, we identified several genes, whose knockdown protected against αSyn-induced toxicity. The main hit was further validated by different methods, including immunofluorescence microscopy, qPCR, and Western blot. Furthermore, the main finding was confirmed in mouse primary neurons. Results The highest protection was achieved by knockdown of SNX5, which encodes the sorting nexin 5 (SNX5) protein, a component of the retromer complex. The protective efficacy of SNX5 knockdown was confirmed with an independent siRNA system. The protective effect of SNX5 knockdown was further confirmed in primary neurons from transgenic mice, where the knockdown of SNX5 led to amelioration of decrease in synchrony that was observed in untreated and control-siRNA-treated cells. SNX5 protein is a component of the SNX-BAR (Bin/Amphiphysin/Rvs) heterodimer, which is part of the retromer complex. Extracellular αSyn and overexpression of intracellular αSyn led to fragmentation of the trans-Golgi network, which was prevented by SNX5 knockdown that led to confinement of αSyn in early endosomes. Conclusion In summary, our data suggest that SNX5 plays an important role in the trafficking and toxicity of αSyn. Therefore, SNX5 appears to be a target of therapeutic intervention for synucleinopathies.
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spelling doaj-art-c09582e6d0a843e7bd5fca98294ae4ef2025-08-20T03:25:19ZengBMCTranslational Neurodegeneration2047-91582025-06-0114111910.1186/s40035-025-00486-5A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell modelMatthias Höllerhage0Linghan Duan1Oscar Wing Ho Chua2Claudia Moebius3Svenja H. Bothe4Kristina Losse5Rebecca Kotzur6Kristina Lau7Franziska Hopfner8Franziska Richter9Christian Wahl-Schott10Marc Bickle11Günter U. Höglinger12Department of Neurology, Hannover Medical SchoolDepartment of Neurology, Hannover Medical SchoolDepartment of Neurology, Hannover Medical SchoolHT-Technology Development Studio, Max Planck Institute of Molecular Cell Biology and GeneticsDepartment of Neurology, Hannover Medical SchoolDepartment of Neurology, Hannover Medical SchoolDepartment of Pharmacology, Toxicology and Pharmacy, University of Veterinary Medicine HannoverCenter for Systems NeuroscienceDepartment of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU)Center for Systems NeuroscienceThe Institute of Cardiovascular Physiology and Pathophysiology, Ludwig-Maximilians-Universität (LMU)HT-Technology Development Studio, Max Planck Institute of Molecular Cell Biology and GeneticsDepartment of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU)Abstract Background Alpha-synuclein (αSyn) is a major player in the pathophysiology of synucleinopathies, which include Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. To date, there is no disease-modifying therapy available for these synucleinopathies. Furthermore, the intracellular mechanisms by which αSyn confers toxicity are not yet fully understood. Therefore, it is of utmost importance to investigate the pathophysiology of αSyn-induced toxicity in order to identify novel molecular targets for the development of disease-modifying therapies. Methods We performed the first genome-wide siRNA modifier screening in a human postmitotic neuronal cell model using αSyn-induced toxicity as a read-out. In a multi-step approach, we identified several genes, whose knockdown protected against αSyn-induced toxicity. The main hit was further validated by different methods, including immunofluorescence microscopy, qPCR, and Western blot. Furthermore, the main finding was confirmed in mouse primary neurons. Results The highest protection was achieved by knockdown of SNX5, which encodes the sorting nexin 5 (SNX5) protein, a component of the retromer complex. The protective efficacy of SNX5 knockdown was confirmed with an independent siRNA system. The protective effect of SNX5 knockdown was further confirmed in primary neurons from transgenic mice, where the knockdown of SNX5 led to amelioration of decrease in synchrony that was observed in untreated and control-siRNA-treated cells. SNX5 protein is a component of the SNX-BAR (Bin/Amphiphysin/Rvs) heterodimer, which is part of the retromer complex. Extracellular αSyn and overexpression of intracellular αSyn led to fragmentation of the trans-Golgi network, which was prevented by SNX5 knockdown that led to confinement of αSyn in early endosomes. Conclusion In summary, our data suggest that SNX5 plays an important role in the trafficking and toxicity of αSyn. Therefore, SNX5 appears to be a target of therapeutic intervention for synucleinopathies.https://doi.org/10.1186/s40035-025-00486-5Genome-wide RNAi screeningParkinson’s diseaseAlpha-synucleinRetromerSNX5Trans-Golgi network
spellingShingle Matthias Höllerhage
Linghan Duan
Oscar Wing Ho Chua
Claudia Moebius
Svenja H. Bothe
Kristina Losse
Rebecca Kotzur
Kristina Lau
Franziska Hopfner
Franziska Richter
Christian Wahl-Schott
Marc Bickle
Günter U. Höglinger
A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
Translational Neurodegeneration
Genome-wide RNAi screening
Parkinson’s disease
Alpha-synuclein
Retromer
SNX5
Trans-Golgi network
title A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
title_full A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
title_fullStr A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
title_full_unstemmed A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
title_short A genome-wide RNA interference screening reveals protectiveness of SNX5 knockdown in a Parkinson’s disease cell model
title_sort genome wide rna interference screening reveals protectiveness of snx5 knockdown in a parkinson s disease cell model
topic Genome-wide RNAi screening
Parkinson’s disease
Alpha-synuclein
Retromer
SNX5
Trans-Golgi network
url https://doi.org/10.1186/s40035-025-00486-5
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