Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases, Department of Biosciences, University of Milan, 20122, Milan, Italy.
INGM, Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi", Milan, Italy.
Nat Commun. 2024 Aug 2;15(1):6534. doi: 10.1038/s41467-024-50877-x.
Huntington's disease (HD) causes selective degeneration of striatal and cortical neurons, resulting in cell mosaicism of coexisting still functional and dysfunctional cells. The impact of non-cell autonomous mechanisms between these cellular states is poorly understood. Here we generated telencephalic organoids with healthy or HD cells, grown separately or as mosaics of the two genotypes. Single-cell RNA sequencing revealed neurodevelopmental abnormalities in the ventral fate acquisition of HD organoids, confirmed by cytoarchitectural and transcriptional defects leading to fewer GABAergic neurons, while dorsal populations showed milder phenotypes mainly in maturation trajectory. Healthy cells in mosaic organoids restored HD cell identity, trajectories, synaptic density, and communication pathways upon cell-cell contact, while showing no significant alterations when grown with HD cells. These findings highlight cell-type-specific alterations in HD and beneficial non-cell autonomous effects of healthy cells, emphasizing the therapeutic potential of modulating cell-cell communication in disease progression and treatment.
亨廷顿病(HD)导致纹状体和皮质神经元的选择性退化,导致共存的仍具有功能和功能障碍的细胞出现细胞镶嵌现象。人们对这两种细胞状态之间的非细胞自主机制的影响知之甚少。在这里,我们生成了具有健康或 HD 细胞的端脑类器官,分别或作为两种基因型的镶嵌体进行培养。单细胞 RNA 测序揭示了 HD 类器官在腹侧命运获得中的神经发育异常,这通过细胞结构和转录缺陷得到了证实,导致 GABA 能神经元减少,而背侧群体则主要表现为成熟轨迹的轻度表型。镶嵌类器官中的健康细胞在细胞-细胞接触时恢复了 HD 细胞的特征、轨迹、突触密度和通讯途径,而与 HD 细胞一起生长时则没有明显的变化。这些发现强调了 HD 中的细胞类型特异性改变和健康细胞的有益非细胞自主效应,突出了调节细胞-细胞通讯在疾病进展和治疗中的治疗潜力。