ATP13A2 restrains macrophage NLRP3 inflammasome activation to repress neurodegeneration via modulating mitochondrial homeostasis
Neuro-immune crosstalk is increasingly recognized in Parkinson's disease (PD), and ATP13A2 is well known for its neuroprotective role. However, it remains unclear whether <i>ATP13A2</i> mutations carried by PD patients contribute to immune dysfunction that exacerbates disease progression. Here, we systematically demonstrate that many <i>ATP13A2</i> mutations result in a loss-of-expression phenotype. ATP13A2 is highly expressed in macrophages. Myeloid ATP13A2 deficiency causes uncontrolled NLRP3 inflammasome activation driven by lysosomal alkalization and subsequent disrupted mitochondrial homeostasis, rendering mice susceptible to a PD-like phenotype. PD-linked <i>ATP13A2</i> loss-of-expression mutants fail to restore the ATP13A2 levels required to suppress NLRP3 hyperactivation in ATP13A2-depleted human THP-1 monocytes. Macrophages from a PD patient carrying the <i>ATP13A2</i> loss-of-expression L927P mutation exhibit excessive NLRP3 activation due to lysosomal-mitochondrial dysfunction. Our findings provide insight into PD pathogenesis, emphasizing genetic factor-driven dysregulated macrophage NLRP3 activation, particularly in <i>ATP13A2</i> loss-of-expression mutation cases.
Authors
- Xiaosheng Zheng (ORCID: https://orcid.org/0000-0002-2710-6775)
- Ji Chen
- Xinnuo Ge
- Ziqi Zou
- Jiajie Zhou (ORCID: https://orcid.org/0000-0001-5886-7561)
- Xiaoyu Wang (ORCID: https://orcid.org/0000-0002-9598-5214)
- Junping Liu (ORCID: https://orcid.org/0000-0003-4514-1598)
- Chenyao Guo
- Yue Huang (ORCID: https://orcid.org/0009-0006-9557-450X)
- Jia He (ORCID: https://orcid.org/0000-0001-6153-9550)
- Yi Du (ORCID: https://orcid.org/0000-0002-9379-8132)
- Hua Tian (ORCID: https://orcid.org/0000-0002-4132-1025)
- Yiting Zhou (ORCID: https://orcid.org/0000-0001-8401-1628)
- Y M Song
- Weiran Yao
- Wei Luo
- Meng Xia
- Yanhua Lu
- Linru Zhou
- Qingqing Wang
Institutions
- Allen Institute for Brain Science (US)
- Hangzhou Normal University (CN)
- Henan University of Science and Technology (CN)
- Sir Run Run Shaw Hospital (CN)
- University Medical Center (US)
- Institute of Immunology (HR)
- Second Affiliated Hospital of Zhejiang University (CN)
- Ministry of Public Health (MG)
- Monash University (AU)
- Zhejiang University (CN)
Publication Details
- Journal
- Proceedings of the National Academy of Sciences
- Published
- 2026-03-17
- DOI
- https://doi.org/10.1073/pnas.2534066123
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00