Cholesterol dysregulation in APOE4 astrocytes promotes α-synuclein pathology in miBrains

Read full text
Authors: Louise Alessandra Mesentier-Louro, Camille Goldman, Sebastian Gaese, Alice Buonfiglioli, Dimitrios Kyriakis, Ashley Harlock, Alain Ndayisaba, Emily R. Sartori, Abigail Uchitelev, John F. Fullard, Evelyn Hennigan, Donghoon Lee
+7 more Braxton R. Schuldt, Rikki B. Rooklin, Jonathan Barra, Jose Javier Bravo‐Cordero, Panos Roussos, Vikram Khurana, Joel Blanchard
Cited by: 1
References: 117

Abstract

The pathological hallmarks of neurodegeneration are the aberrant post-translational modification and aggregation of proteins. Genetic factors, like APOE4, increase the prevalence and severity of tau, amyloid, and α-synuclein pathologies. However, the human brain is largely inaccessible during this process, limiting mechanistic understanding. Here, we developed an iPSC-based 3D model that integrates neurons, glia, myelin, and cerebrovascular cells into a human brain-like tissue ("miBrain"). Single-nucleus RNA sequencing of miBrains confirmed the presence of diverse cell populations and revealed transcriptional responses to α-synuclein pathology. Like the human brain, pathogenic α-synuclein is increased in APOE4/4 miBrains. Combinatorial experiments revealed that endolysosomal dysfunction caused by cholesterol accumulation in APOE4/4 astrocytes impairs the degradation of soluble α-synuclein leading to a pathogenic transformation that seeds α-synuclein inclusions in neurons. Collectively, this study establishes a robust model for investigating protein inclusions in human iPSC-derived brain tissue and highlights the role of astrocytes and cholesterol in APOE4-mediated pathologies.

Fields of Study & Subjects

Parkinson's Disease Mechanisms and Treatments Alzheimer's disease research and treatments Neurogenesis and neuroplasticity mechanisms

Publication details

Journal / source
Cell stem cell
Publisher
Elsevier BV
Volume
33
Issue
9
Pages
1459–1476.e10
Publication date
24 August 2026
Language
EN