Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

doi:10.1007/s00401-023-02568-y

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Article

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

Acta neuropathologica - 1 Jun 2023

Filipello Fabia, You Shih-Feng, Mirfakhar Farzaneh S, Mahali Sidhartha, Bollman Bryan, Acquarone Mariana, Korvatska Olena, Marsh Jacob A, Sivaraman Anirudh, Martinez Rita, Cantoni Claudia, De Feo Luca, Ghezzi Laura, Minaya Miguel A, Renganathan Arun, Cashikar Anil G, Satoh Jun-Ichi, Beatty Wandy, Iyer Abhirami K, Cella Marina, Raskind Wendy H, Piccio Laura, Karch Celeste M

Abstract excerpt

TREM2 is an innate immune receptor expressed by microglia in the adult brain. Genetic variation in the TREM2 gene has been implicated in risk for Alzheimer's disease and frontotemporal dementia, while homozygous TREM2 mutations cause a rare leukodystrophy, Nasu-Hakola disease (NHD). Despite extensive investigation, the role of TREM2 in NHD pathogenesis remains poorly understood. Here, we investigate the...

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PMID: 37115208
DOI: 10.1007/s00401-023-02568-y
PMCID: PMC10175346

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