Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Autosomal-recessive hereditary spastic paraplegia
Disease-associated microglia
IFNγ/ STAT1 signaling
Induced microglia-like cells
Inflammation
Multisystem neurodegeneration
Journal
Acta neuropathologica
ISSN: 1432-0533
Titre abrégé: Acta Neuropathol
Pays: Germany
ID NLM: 0412041
Informations de publication
Date de publication:
02 Feb 2024
02 Feb 2024
Historique:
received:
25
10
2023
accepted:
22
12
2023
revised:
15
12
2023
medline:
2
2
2024
pubmed:
2
2
2024
entrez:
2
2
2024
Statut:
epublish
Résumé
Biallelic loss of SPG11 function constitutes the most frequent cause of complicated autosomal recessive hereditary spastic paraplegia (HSP) with thin corpus callosum, resulting in progressive multisystem neurodegeneration. While the impact of neuroinflammation is an emerging and potentially treatable aspect in neurodegenerative diseases and leukodystrophies, the role of immune cells in SPG11-HSP patients is unknown. Here, we performed a comprehensive immunological characterization of SPG11-HSP, including examination of three human postmortem brain donations, immunophenotyping of patients' peripheral blood cells and patient-specific induced pluripotent stem cell-derived microglia-like cells (iMGL). We delineate a previously unknown role of innate immunity in SPG11-HSP. Neuropathological analysis of SPG11-HSP patient brain tissue revealed profound microgliosis in areas of neurodegeneration, downregulation of homeostatic microglial markers and cell-intrinsic accumulation of lipids and lipofuscin in IBA1
Identifiants
pubmed: 38305941
doi: 10.1007/s00401-023-02675-w
pii: 10.1007/s00401-023-02675-w
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
28Subventions
Organisme : Bundesministerium für Bildung und Forschung
ID : 01GM1905B
Organisme : Bundesministerium für Bildung und Forschung
ID : 01GM2209B
Organisme : Bundesministerium für Bildung und Forschung
ID : 01EO2105
Organisme : Bundesministerium für Bildung und Forschung
ID : 01GM2209C
Organisme : Deutsche Forschungsgemeinschaft
ID : 270949263
Organisme : Deutsche Forschungsgemeinschaft
ID : 505539112
Organisme : Deutsche Forschungsgemeinschaft
ID : FOG2625 HU 800/13-2
Organisme : EU Horizon 2020 program
ID : 779257
Organisme : Senior Clinical Researcher mandate of the Research Fund - Flanders (FWO)
ID : 1805021N
Informations de copyright
© 2024. The Author(s).
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