bioRxivGeneticsPreprint
Redox Dyshomeostasis Links Renal and Neuronal Dysfunction in Drosophila Models of Gaucher and Parkinson's Disease
Alexander J. HulliD, Magda Luciana AtilanoiD, Kerri J. KinghorniD
Abstract
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by bi-allelic mutations in the GBA1 gene. Variants in GBA1 also represent the most frequent genetic risk factor for Parkinsons disease (PD). Although GD and PD are clinically distinct disorders, they share key pathological features, including lysosomal dysfunction, mitochondrial stress, and redox imbalance. While PD has traditionally been studied in the context of neuronal decline, the contribution of non-neuronal organ systems remains poorly understood. Here, we demonstrate that progressive renal dysfunction is a central, disease-modifying feature in Drosophila models of GD and PD. We show that Drosophila lacking either the main fly orthologue of GBA1, Gba1b, or the mitophagy regulator Parkin, exhibit age-dependent degeneration of the renal system. This includes disorganisation of the Malpighian tubules, impaired nephrocyte function, redox imbalance, and lipid accumulation. These renal defects contribute to systemic physiological decline, including water retention, ionic hypersensitivity, and exacerbation of neurodegenerative phenotypes. Importantly, we identify redox dyshomeostasis, rather than classical oxidative stress, as a central pathogenic driver, marked by paradoxical sensitivity to both oxidative and reductive interventions. Notably, treatment with the mTOR inhibitor rapamycin selectively restores renal structure and function in Gba1b mutants, but not in Parkin mutants, revealing mechanistic divergence between lysosomal and mitochondrial stress. These findings uncover redox imbalance as a biomarker of renal vulnerability and establish the renal system as a critical, potentially disease-modifying organ in the systemic progression of GD and PD.
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Targeting Lysosomal pH Restores Mitochondrial Quality Control in GBA1-Mutant Parkinsons Disease
Preethi Sheshadri, Maria A. Costa-Besada, … Michael R. Duchen·Translational NeurodegenerationPeer-reviewed·Jun 17, 2026
- Gba1 deletion causes immune hyperactivation and microbial dysbiosis through autophagic defects
Magda Luciana Atilano, Alexander J. Hull, … Kerri J. Kinghorn·PLoS GeneticsPeer-reviewed·Dec 21, 2023
- A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction
Oliver B. Davis, Jennifer E. Kung, … Anastasia G. Henry·bioRxiv·Aug 28, 2025
- The absence of gastrointestinal redox dyshomeostasis in the brain-first rat model of Parkinson's disease induced by bilateral intrastriatal 6-hydroxydopamine
Jan Homolak, Mihovil Joja, … Melita Šalković‐Petrišić·Molecular NeurobiologyPeer-reviewed·Jan 10, 2024
- Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein mediated neurodegeneration
Meigen Yu, Hui Ye, … Joshua M Shulman·bioRxiv·Jul 23, 2022
- Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism
Chase Chen, Charis Ma, … Yu Chen·bioRxiv·Jun 23, 2025