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Biology subjects

Kinghorn, K. J.

Publications and source records attributed to Kinghorn, K. J..

2 recordsLinked to original sources

Redox Dyshomeostasis Links Renal and Neuronal Dysfunction in Drosophila Models of Gaucher and Parkinson's Disease

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.

genetics↗

Gba1 deletion causes immune hyperactivation and microbial dysbiosis through autophagic defects

Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest genetic risk factor for Parkinsons disease (PD). Communication between gut and brain and immune dysregulation are increasingly being implicated in neurodegenerative disorders such as PD. Here, we show that flies lacking the Gba1b gene, the main fly orthologue of GBA1, display widespread innate immune up-regulation, including gut inflammation and brain glial activation. We also demonstrate gut dysfunction in flies lacking Gba1b, with increased intestinal transit time, gut barrier permeability and microbiome dysbiosis. Remarkably, modulating the microbiome of Gba1b knockout flies, by raising them under germ-free conditions, can partially ameliorate lifespan, locomotor and some neuropathological phenotypes. Lastly, direct stimulation of autophagy by rapamycin treatment achieves similar beneficial effects. Overall, our data reveal that the gut microbiome drives systemic immune activation in Gba1b knockout flies and that reducing innate immune response activation either by eliminating the microbiota or clearance of immunogens by autophagy may represent potential therapeutic avenues for GBA1-associated neurodegenerative disease.

neuroscience↗