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@ARTICLE{Brunialti:282551,
author = {Brunialti, Electra and Villa, Alessandro and Szego, Eva M
and La Vitola, Pietro and Drago, Denise and Pavlovic,
Radmila and Fontana, Laura and Tuna, Doga and Panzeri,
Alessia and Meda, Clara and Weissleder, Christin and
Rondinone, Ornella and Pitasi, Mattia and Miozzo, Monica and
Deleidi, Michela and Andolfo, Annapaola and Di Monte, Donato
A and Ciana, Paolo},
title = {{M}etabolic reprogramming and altered {ATP} content impair
neuroprotective functions of microglia in
β-glucocerebrosidase deficiency models.},
journal = {Journal of neuroinflammation},
volume = {22},
number = {1},
issn = {1742-2094},
address = {London},
publisher = {BioMed Central},
reportid = {DZNE-2025-01314},
pages = {279},
year = {2025},
abstract = {Mutations in the GBA gene, which reduce
β-glucocerebrosidase (GCase) activity, represent the most
significant genetic risk factor for Parkinson’s disease
(PD). Decreased GCase activity has also been observed in
sporadic PD cases, supporting a broader role for GCase in
the poorly understood mechanisms underlying PD
etiopathogenesis. While most studies on the relationship
between GBA mutations and PD have focused on neurons,
evidence suggests that PD pathology promoted by GCase
deficiency involves other cell types and, in particular,
interactions between neuronal and glial cells. Here, we
identify microglia as primary players undergoing significant
alterations at early stages of the pathological processes
triggered by a GCase impairment. Using both pharmacological
and genetic mouse models of GCase deficiency, we observed
microglial morphological, transcriptional and metabolic
changes. Interestingly, these changes were associated with a
cell-specific, significant reduction of microglial ATP
levels. When microglial ATP depletion was reproduced in an
in vitro system of co-cultured microglial and neuronal
cells, the neuroprotective properties of microglia were
compromised, resulting in reduced cytoprotective and
detoxifying pathways in neurons. These findings underscore
the role of microglia in PD pathogenesis and point to a
pathogenetic mechanism by which microglial metabolic
disturbances leading to ATP depletion enhance neuronal
vulnerability to injury and neurodegeneration. This
mechanism could be targeted for therapeutic intervention
aimed at mitigating PD risk and counteracting the
development of PD pathology.The online version contains
supplementary material available at
10.1186/s12974-025-03616-y.},
keywords = {ATP (Other) / Energetic failure (Other) / Gaucher’s
disease (Other) / Microglia (Other) / Neuroprotection
(Other) / Parkinson’s disease (Other)},
cin = {AG Di Monte},
ddc = {610},
cid = {I:(DE-2719)1013008},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41291747},
pmc = {pmc:PMC12648879},
doi = {10.1186/s12974-025-03616-y},
url = {https://pub.dzne.de/record/282551},
}