Romay Milagros C, Knutsen Russell H, Ma Feiyang, Mompeón Ana, Hernandez Gloria E, Salvador Jocelynda, Mirkov Snezana, Batra Ayush, Sullivan David P, Procissi Daniele, Buchanan Samuel, Kronquist Elise, Ferrante Elisa A, Muller William A, Walshon Jordain, Steffens Alicia, McCortney Kathleen, Horbinski Craig, Tournier-Lasserve Elisabeth, Sonabend Adam M, Sorond Farzaneh A, Wang Michael M, Boehm Manfred, Kozel Beth A, Iruela-Arispe M Luisa
Department of Cell and Development Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland, USA.
J Clin Invest. 2024 Jan 16;134(2):e166134. doi: 10.1172/JCI166134.
Vascular aging affects multiple organ systems, including the brain, where it can lead to vascular dementia. However, a concrete understanding of how aging specifically affects the brain vasculature, along with molecular readouts, remains vastly incomplete. Here, we demonstrate that aging is associated with a marked decline in Notch3 signaling in both murine and human brain vessels. To clarify the consequences of Notch3 loss in the brain vasculature, we used single-cell transcriptomics and found that Notch3 inactivation alters regulation of calcium and contractile function and promotes a notable increase in extracellular matrix. These alterations adversely impact vascular reactivity, manifesting as dilation, tortuosity, microaneurysms, and decreased cerebral blood flow, as observed by MRI. Combined, these vascular impairments hinder glymphatic flow and result in buildup of glycosaminoglycans within the brain parenchyma. Remarkably, this phenomenon mirrors a key pathological feature found in brains of patients with CADASIL, a hereditary vascular dementia associated with NOTCH3 missense mutations. Additionally, single-cell RNA sequencing of the neuronal compartment in aging Notch3-null mice unveiled patterns reminiscent of those observed in neurodegenerative diseases. These findings offer direct evidence that age-related NOTCH3 deficiencies trigger a progressive decline in vascular function, subsequently affecting glymphatic flow and culminating in neurodegeneration.
血管衰老会影响多个器官系统,包括大脑,进而可能导致血管性痴呆。然而,对于衰老如何具体影响脑血管系统以及相关分子读数,我们的认识仍非常不完整。在此,我们证明衰老与小鼠和人类脑血管中Notch3信号的显著下降有关。为了阐明Notch3缺失对脑血管系统的影响,我们采用单细胞转录组学方法,发现Notch3失活会改变钙调节和收缩功能,并促使细胞外基质显著增加。这些改变对血管反应性产生不利影响,表现为血管扩张、迂曲、微动脉瘤形成以及脑血流量减少,这在磁共振成像中得以观察到。综合来看,这些血管损伤阻碍了类淋巴液流动,并导致脑实质内糖胺聚糖积聚。值得注意的是,这种现象反映了伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者大脑中的一个关键病理特征,CADASIL是一种与NOTCH3错义突变相关的遗传性血管性痴呆。此外,对衰老的Notch3基因敲除小鼠神经元区室进行单细胞RNA测序,发现了与神经退行性疾病中相似的模式。这些发现提供了直接证据,表明与年龄相关的NOTCH3缺陷会引发血管功能的进行性衰退,随后影响类淋巴液流动,并最终导致神经退行性变。