Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, ON, N6A 5C1, Canada.
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON, Canada.
Acta Neuropathol. 2024 Jun 19;147(1):105. doi: 10.1007/s00401-024-02759-1.
Alzheimer's disease (AD) is a progressive neurological condition characterized by impaired cognitive function and behavioral alterations. While AD research historically centered around mis-folded proteins, advances in mass spectrometry techniques have triggered increased exploration of the AD lipidome with lipid dysregulation emerging as a critical player in AD pathogenesis. Gangliosides are a class of glycosphingolipids enriched within the central nervous system. Previous work has suggested a shift in a-series gangliosides from complex (GM1) to simple (GM2 and GM3) species may be related to the development of neurodegenerative disease. In addition, complex gangliosides with 20 carbon sphingosine chains have been shown to increase in the aging brain. In this study, we utilized matrix-assisted laser desorption ionization mass spectrometry imaging (MALDI-MSI) to interrogate the in situ relationship of a-series gangliosides with either 18 or 20 carbon sphingosine chains (d18:1 or d20:1, respectively) in the post-mortem human AD brain. Here, we expanded upon previous literature and demonstrated a significant decrease in the GM1 d20:1 to GM1 d18:1 ratio in regions of the dentate gyrus and entorhinal cortex in AD relative to control brain tissue. Then, we demonstrated that the MALDI-MSI profile of GM3 co-localizes with histologically confirmed amyloid beta (Aβ) plaques and found a significant increase in both GM1 and GM3 in proximity to Aβ plaques. Collectively, this study demonstrates a perturbation of the ganglioside profile in AD, and validates a pipeline for MALDI-MSI and classic histological staining in the same tissue sections. This demonstrates feasibility for integrating untargeted mass spectrometry imaging approaches into a digital pathology framework.
阿尔茨海默病(AD)是一种进行性神经疾病,其特征是认知功能受损和行为改变。虽然 AD 研究历史上集中在错误折叠的蛋白质上,但质谱技术的进步促使人们对 AD 的脂类组学进行了更多的探索,脂类失调成为 AD 发病机制的关键因素。神经节苷脂是一类富含中枢神经系统的糖脂。以前的工作表明,a 系列神经节苷脂从复杂(GM1)向简单(GM2 和 GM3)物种的转变可能与神经退行性疾病的发展有关。此外,具有 20 个碳神经酰胺链的复杂神经节苷脂已被证明在衰老大脑中增加。在这项研究中,我们利用基质辅助激光解吸电离质谱成像(MALDI-MSI)来检测死后 AD 人脑中具有 18 或 20 个碳神经酰胺链(分别为 d18:1 或 d20:1)的 a 系列神经节苷脂的原位关系。在这里,我们扩展了以前的文献,并证明在 AD 中与控制脑组织相比,齿状回和内嗅皮层区域 GM1 d20:1 与 GM1 d18:1 的比值显著降低。然后,我们证明 GM3 的 MALDI-MSI 图谱与组织学上确认的淀粉样蛋白β(Aβ)斑块共定位,并发现 Aβ 斑块附近 GM1 和 GM3 的含量显著增加。总的来说,这项研究表明 AD 中神经节苷脂谱发生了紊乱,并验证了 MALDI-MSI 和经典组织学染色在同一组织切片中的应用。这证明了将非靶向质谱成像方法整合到数字病理学框架中的可行性。