Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, 49503, USA.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.
Nat Commun. 2024 Mar 26;15(1):2642. doi: 10.1038/s41467-024-47027-8.
A key hallmark of Parkinson's disease (PD) is Lewy pathology. Composed of α-synuclein, Lewy pathology is found both in dopaminergic neurons that modulate motor function, and cortical regions that control cognitive function. Recent work has established the molecular identity of dopaminergic neurons susceptible to death, but little is known about cortical neurons susceptible to Lewy pathology or molecular changes induced by aggregates. In the current study, we use spatial transcriptomics to capture whole transcriptome signatures from cortical neurons with α-synuclein pathology compared to neurons without pathology. We find, both in PD and related PD dementia, dementia with Lewy bodies and in the pre-formed fibril α-synucleinopathy mouse model, that specific classes of excitatory neurons are vulnerable to developing Lewy pathology. Further, we identify conserved gene expression changes in aggregate-bearing neurons that we designate the Lewy-associated molecular dysfunction from aggregates (LAMDA) signature. Neurons with aggregates downregulate synaptic, mitochondrial, ubiquitin-proteasome, endo-lysosomal, and cytoskeletal genes and upregulate DNA repair and complement/cytokine genes. Our results identify neurons vulnerable to Lewy pathology in the PD cortex and describe a conserved signature of molecular dysfunction in both mice and humans.
帕金森病(PD)的一个主要特征是路易体病理。路易体由α-突触核蛋白组成,存在于调节运动功能的多巴胺能神经元和控制认知功能的皮质区域。最近的研究已经确定了易受死亡影响的多巴胺能神经元的分子特征,但对于易受路易体病理或聚集物诱导的分子变化影响的皮质神经元知之甚少。在本研究中,我们使用空间转录组学来捕获具有α-突触核蛋白病理的皮质神经元的全转录组特征,与没有病理的神经元进行比较。我们发现,无论是在 PD 还是相关的 PD 痴呆、路易体痴呆以及预先形成的纤维状α-突触核蛋白病小鼠模型中,特定类型的兴奋性神经元都容易发生路易体病理。此外,我们还确定了在携带聚集物的神经元中存在保守的基因表达变化,我们将其命名为聚集物相关的分子功能障碍的路易相关分子特征(LAMDA)。携带聚集物的神经元下调突触、线粒体、泛素-蛋白酶体、内溶酶体和细胞骨架基因,并上调 DNA 修复和补体/细胞因子基因。我们的研究结果在 PD 皮质中鉴定了易受路易体病理影响的神经元,并描述了在小鼠和人类中都存在的分子功能障碍的保守特征。