SNCA triplication disrupts proteostasis and extracellular architecture prior to neurodegeneration in human midbrain organoids

Synucleinopathies, including Parkinson's disease, involve α-synuclein (SNCA) accumulation and neurodegeneration, but early molecular effects of increased SNCA dosage remain incompletely defined. We examined human midbrain organoids derived from induced pluripotent stem cells carrying SNCA triplication and an isogenic control to assess early alterations in a 3D human model. We detected early changes in signalling linked to protein synthesis and stress responses prior to pronounced neurodegeneration. Proteomic and transcriptomic analyses indicated coordinated modulation of neuronal pathways and extracellular matrix components, including enrichment of perineuronal net-associated proteins alongside reduced expression of other matrix constituents. Ribosome profiling showed selective translational buffering for subsets of neuronal and matrix-related transcripts. Imaging revealed increased pericellular and interstitial matrix structures around neurons, emerging earlier in TH<sup>+</sup> cells. Collectively, these findings identify early, alterations in proteostasis-related signalling and extracellular matrix organization in human midbrain organoids with SNCA triplication, preceding overt neurodegenerative changes.

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Publication Details

Journal
npj Parkinson s Disease
Published
2026-02-16
DOI
https://doi.org/10.1038/s41531-026-01292-0
Primary Topic
Parkinson's Disease Mechanisms and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

SNCA triplication disrupts proteostasis and extracellular architecture prior to neurodegeneration in human midbrain organoids

Georgia Voudouri, Elpida Statoulla, Kleanthi Chalkiadaki, Karmel S. Gkika et al.
npj Parkinson s Disease
Parkinson's Disease Mechanisms and Treatments
article

SNCA triplication disrupts proteostasis and extracellular architecture prior to neurodegeneration in human midbrain organoids

Georgia Voudouri, Elpida Statoulla, Kleanthi Chalkiadaki, Karmel S. Gkika, Arkady Khoutorsky, Thomas M. Durcan, Maria Zafeiri, Alexander Dityatev, Christos Papazoglou, Sarah Maguire
article en

Abstract

Synucleinopathies, including Parkinson's disease, involve α-synuclein (SNCA) accumulation and neurodegeneration, but early molecular effects of increased SNCA dosage remain incompletely defined. We examined human midbrain organoids derived from induced pluripotent stem cells carrying SNCA triplication and an isogenic control to assess early alterations in a 3D human model. We detected early changes in signalling linked to protein synthesis and stress responses prior to pronounced neurodegeneration. Proteomic and transcriptomic analyses indicated coordinated modulation of neuronal pathways and extracellular matrix components, including enrichment of perineuronal net-associated proteins alongside reduced expression of other matrix constituents. Ribosome profiling showed selective translational buffering for subsets of neuronal and matrix-related transcripts. Imaging revealed increased pericellular and interstitial matrix structures around neurons, emerging earlier in TH<sup>+</sup> cells. Collectively, these findings identify early, alterations in proteostasis-related signalling and extracellular matrix organization in human midbrain organoids with SNCA triplication, preceding overt neurodegenerative changes.

npj Parkinson s Disease
Queen's University Belfast (GB), German Center for Neurodegenerative Diseases (DE), The Northern Ireland Cancer Centre (GB), Center for Behavioral Brain Sciences (DE), McGill University (CA), Foundation for Research and Technology Hellas (GR)
McGill University, National Institutes of Health
Openalex Percentile: Top 58%
Parkinson's Disease Mechanisms and Treatments
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