Miedema Suzanne S M, Rajicic Ana, Mol Merel O, Paliukhovich Iryna, Klaassen Remco V, van Buuren Renee, Li Ka Wan, Koopmans Frank T W, Seelaar Harro, van Rooij Jeroen G J, Smit August B, van Swieten John C
Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Department of Neurology and Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
Acta Neuropathol Commun. 2025 Jul 25;13(1):162. doi: 10.1186/s40478-025-02077-x.
Semantic dementia (SD) is a clinical subtype of frontotemporal dementia characterized by impaired word comprehension and semantic memory, and occurs nearly always sporadically. Neuroimaging typically reveals asymmetric, predominantly left-sided, atrophy of the anterior temporal pole, anterior fusiform gyrus, and the hippocampus. Post-mortem pathological examination shows frontotemporal lobar degeneration TDP type C, characterized by long dystrophic neurites in the temporal cortex and typical round, TDP-43-positive neuronal inclusions in the dentate gyrus. While neuronal loss in the temporal cortex is severe in the end stage of disease, the dentate gyrus seems relatively spared. This characteristic and well-defined disease profile suggests SD patients share a specific underlying disease biology. Recently, we performed the first quantitative proteomic study of the dentate gyrus, uncovering potential SD-specific biological pathways. Here, we report on the first quantitative proteomic study of the temporal cortex in SD. We studied the same patient and non-demented control cohort, enabling comparative analysis between the two brain regions. In addition, we compared our dataset with other frontotemporal lobar degeneration subtypes and Alzheimer's disease to separate SD disease-specific changes from common neurodegenerative processes. In the temporal cortex, involvement of the ribonucleoprotein complex and presynaptic regulation of cytosolic calcium levels by voltage-gated calcium channels appear unique facets of the SD disease process. Furthermore, we observed a striking difference in the abundance of neuropathological proteins TDP-43 and ANXA11, and their interactors between the temporal cortex and dentate gyrus. The elucidation of these potentially unique disease-specific mechanisms improves our understanding of the pathophysiological processes in SD and paves the way for the discovery of novel therapeutic targets.
语义性痴呆(SD)是额颞叶痴呆的一种临床亚型,其特征为词汇理解和语义记忆受损,几乎均为散发性发病。神经影像学检查通常显示前颞极、前梭状回和海马体不对称性萎缩,且主要为左侧萎缩。尸检病理检查显示为C型额颞叶变性,其特征为颞叶皮质出现长的营养不良性神经突,以及齿状回中典型的圆形、TDP-43阳性神经元包涵体。虽然在疾病末期颞叶皮质的神经元丢失严重,但齿状回似乎相对未受影响。这种特征明确的疾病表现提示SD患者具有特定的潜在疾病生物学特性。最近,我们对齿状回进行了首次定量蛋白质组学研究,发现了潜在的SD特异性生物学途径。在此,我们报告SD患者颞叶皮质的首次定量蛋白质组学研究。我们研究了同一组患者和非痴呆对照人群,从而能够对这两个脑区进行比较分析。此外,我们将我们的数据集与其他额颞叶变性亚型及阿尔茨海默病进行比较,以区分SD疾病特异性变化与常见的神经退行性过程。在颞叶皮质中,核糖核蛋白复合体的参与以及电压门控钙通道对胞质钙水平的突触前调节似乎是SD疾病过程的独特方面。此外,我们观察到神经病理蛋白TDP-43和膜联蛋白A11及其相互作用蛋白在颞叶皮质和齿状回中的丰度存在显著差异。对这些潜在独特的疾病特异性机制的阐明,增进了我们对SD病理生理过程的理解,并为发现新的治疗靶点铺平了道路。