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Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state

Fahad Paryani, Ji‐Sun Kwon, Christopher Ng, Kelly Jakubiak, Nacoya Madden, Kenneth Ofori, Alice Tang, Hong Lü, Shengnan Xia, Juncheng Li, Aayushi Mahajan, Shawn M. Davidson, Anna O. Basile, Caitlin P. McHugh, Jean Paul Vonsattel, Richard A. Hickman, Michael C. Zody, David E. Housman, James E. Goldman, Andrew S. Yoo, Vilas Menon, Osama Al‐Dalahmah

2024Nature Communications38 citationsDOIOpen Access PDF

Abstract

The mechanisms underlying the selective regional vulnerability to neurodegeneration in Huntington’s disease (HD) have not been fully defined. To explore the role of astrocytes in this phenomenon, we used single-nucleus and bulk RNAseq, lipidomics, HTT gene CAG repeat-length measurements, and multiplexed immunofluorescence on HD and control post-mortem brains. We identified genes that correlated with CAG repeat length, which were enriched in astrocyte genes, and lipidomic signatures that implicated poly-unsaturated fatty acids in sensitizing neurons to cell death. Because astrocytes play essential roles in lipid metabolism, we explored the heterogeneity of astrocytic states in both protoplasmic and fibrous-like (CD44+) astrocytes. Significantly, one protoplasmic astrocyte state showed high levels of metallothioneins and was correlated with the selective vulnerability of distinct striatal neuronal populations. When modeled in vitro, this state improved the viability of HD-patient-derived spiny projection neurons. Our findings uncover key roles of astrocytic states in protecting against neurodegeneration in HD. Huntington’s disease (HD) is a neurodegenerative disease that shows selective regional vulnerability. Here, the authors show that postmortem brain HD astrocytes are regionally diverse, with a striatal disease-associated state and a cortical compensatory state that mitigated neural death.

Topics & Concepts

Huntington's diseaseAstrocyteDiseaseNeuroscienceBiologyBioinformaticsComputational biologyMedicinePathologyCentral nervous systemGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyAmyotrophic Lateral Sclerosis Research
Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state | Litcius