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The relationship between LRRK2 mutations and susceptibility to synuclein pathology in Parkinson's disease (PD) is still unclear. We here investigate whether the mice carrying the D1994S kinase-dead (KD) mutation of LRRK2 show enhanced susceptibility to synucleinopathy. Twelve-month-old LRRK2 KD and WT mice were injected with AAV2/9 carrying human A53T α-synuclein (AAV-h-A53Tα-syn) or AAV2/9-GFP as a control. Three months after injection, α-synuclein pathology and nigrostriatal dopaminergic neuron degeneration were assessed along with motor behaviour. AAV-h-A53Tα-syn-injected LRRK2 KD mice showed a decline in stepping activity in the drag test compared to baseline levels and AAV-GFP-injected controls. This was associated with higher transgene levels and Serine129 α-syn phosphorylation in striatum and substantia nigra measured by immunohistochemistry. Total α-synuclein levels were also elevated in the substantia nigra but not striatum of AAV-h-A53Tα-syn LRRK2 KD mice compared to AAV-h-A53Tα-syn controls. Stereological counting of nigral dopaminergic neurons and densitometric analysis of striatal dopaminergic terminals did not reveal overt nigrostriatal degeneration. We conclude that silencing of kinase activity results in greater α-syn load due to greater viral transduction and/or defective α-syn clearance, possibly related to autophagy-lysosomal pathway impairment, however, with no consequence upon dopaminergic neuron survival in the mouse.
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http://dx.doi.org/10.1038/s41598-025-94165-0 | DOI Listing |
The end-stage pathology of Parkinson's disease (PD) involves the loss of dopamine-producing neurons in the substantia nigra pars compacta (SNc). However, synaptic deregulation of these neurons begins much earlier. Understanding the mechanisms behind synaptic deficits is crucial for early therapeutic intervention, yet these remain largely unknown.
View Article and Find Full Text PDFSci Prog
September 2025
Department of Critical Care Medicine, Kweichow Moutai Hospital, Renhuai, China.
ObjectiveTo investigate the role and mechanism of long noncoding RNA LINKA (LncRNA LINKA) in hyperoxia-induced acute lung injury (HALI), specifically focusing on its impact on the GPNMB (glycoprotein nonmetastatic B protein)/HIF-1α (hypoxia-inducible factor 1-alpha) signaling pathway of apoptosis.MethodsAn experimental animal study was conducted using specific pathogen-free (SPF) male C57BL/6 mice and GPNMB knockout (KO) mice. Lung injury was assessed by measuring total protein in bronchoalveolar lavage fluid (BALF), lung wet/dry weight (W/D) ratio, serum levels of inflammatory (tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β)) and oxidative stress (malondialdehyde (MDA) and superoxide dismutase (SOD)) mediators, histopathological scoring (hematoxylin and eosin staining), apoptosis rate (terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) assay), and expression levels of GPNMB/HIF-1α pathway proteins (p-GPNMB, phosphorylated leucine-rich repeat kinase 2 (p-LRRK2), p-HIF-1α) and apoptosis regulators (BCL2-associated X protein (Bax), B-cell lymphoma 2 (Bcl-2)) via western blotting.
View Article and Find Full Text PDFNPJ Parkinsons Dis
August 2025
Department of Microbiology and Immunology, McGill University, Montreal, QC, Canada.
Parkinson's Disease (PD) is a neurodegenerative disorder often preceded by gastrointestinal dysfunction. Mutations in leucine-rich repeat kinase 2 (LRRK2) are known risk factors for both PD and inflammatory bowel disease (IBD), suggesting a link between PD and the gastrointestinal tract. Using single-cell RNA-sequencing and spectral flow cytometry, we demonstrated that the Lrrk2 Gly2019Ser (G2019S) mutation is associated with an increased neutrophil presence in the colonic lamina propria during Citrobacter rodentium infection.
View Article and Find Full Text PDFMol Neurodegener
August 2025
Denali Therapeutics Inc, 161 Oyster Point Blvd, South San Francisco, CA, 94080, USA.
Background: Pathogenic variants in LRRK2 lead to increased kinase activity, and LRRK2 kinase inhibition is being explored in clinical studies as a therapeutic approach for Parkinson's Disease (PD). LRRK2 inhibitors reduce urine levels of bis(monoacylglycerol)phosphate (BMP), a key endolysosomal lipid involved in glycosphingolipid (GSL) catabolism, in preclinical models and clinical subjects. However, how LRRK2 regulates BMP and its significance with respect to lysosomal dysfunction in PD are poorly defined.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
August 2025
Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305-5307.
Parkinson's disease is characterized by loss of dopamine neurons that project to the dorsal striatum, and mutations in and are the most common genetic causes of familial Parkinson's disease. Previously, we showed that pathogenic mutations inhibit primary cilia formation in rare interneurons and astrocytes of the mouse and human dorsal striatum. This blocks Hedgehog signaling and reduces synthesis of neuroprotective GDNF and NRTN, which normally support dopamine neurons vulnerable in PD.
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