Department of Neurology, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.
Department of Neurology, The First People's Hospital of Yancheng, Yancheng, China.
CNS Neurosci Ther. 2024 Mar;30(3):e14680. doi: 10.1111/cns.14680.
Differences in cortical morphology have been reported in individuals with Parkinson's disease (PD). However, the pathophysiological mechanism of transcriptomic vulnerability in local brain regions remains unclear.
This study aimed to characterize the morphometric changes of brain regions in early drug-naive PD patients and uncover the brain-wide gene expression correlates.
The morphometric similarity (MS) network analysis was used to quantify the interregional structural similarity from multiple magnetic resonance imaging anatomical indices measured in each brain region of 170 early drug-naive PD patients and 123 controls. Then, we applied partial least squares regression to determine the relationship between regional changes in MS and spatial transcriptional signatures from the Allen Human Brain Atlas dataset, and identified the specific genes related to MS differences in PD. We further investigated the biological processes by which the PD-related genes were enriched and the cellular characterization of these genes.
Our results showed that MS was mainly decreased in cingulate, frontal, and temporal cortical areas and increased in parietal and occipital cortical areas in early drug-naive PD patients. In addition, genes whose expression patterns were associated with regional MS changes in PD were involved in astrocytes, excitatory, and inhibitory neurons and were functionally enriched in neuron-specific biological processes related to trans-synaptic signaling and nervous system development.
These findings advance our understanding of the microscale genetic and cellular mechanisms driving macroscale morphological abnormalities in early drug-naive PD patients and provide potential targets for future therapeutic trials.
帕金森病(PD)患者的皮质形态存在差异。然而,局部脑区转录组易损性的病理生理机制尚不清楚。
本研究旨在描述早期未经药物治疗的 PD 患者脑区的形态变化,并揭示全脑基因表达相关性。
采用形态相似性(MS)网络分析,对 170 例早期未经药物治疗的 PD 患者和 123 例对照者的每个脑区的多个磁共振成像解剖学指标进行测量,以量化脑区间的结构相似性。然后,我们应用偏最小二乘回归确定局部 MS 变化与来自艾伦人类大脑图谱数据集的空间转录组学特征之间的关系,并确定与 PD 中 MS 差异相关的特定基因。我们进一步研究了 PD 相关基因富集的生物学过程和这些基因的细胞特征。
我们的结果表明,早期未经药物治疗的 PD 患者的 MS 主要在扣带回、额和颞皮质区降低,而在顶叶和枕叶皮质区增加。此外,与 PD 中局部 MS 变化相关的基因表达模式与星形胶质细胞、兴奋性和抑制性神经元有关,其功能富集在与跨突触信号和神经系统发育相关的神经元特异性生物学过程中。
这些发现增进了我们对早期未经药物治疗的 PD 患者大脑宏观形态异常的微观遗传和细胞机制的理解,并为未来的治疗试验提供了潜在的靶点。