Haffner Christof
Department of Psychiatry and Psychotherapy, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Front Dement. 2023 Apr 12;2:1146055. doi: 10.3389/frdem.2023.1146055. eCollection 2023.
Pathologies of the brain microvasculature, often referred to as cerebral small-vessel disease, are important contributors to vascular dementia, the second most common form of dementia in aging societies. In addition to their role in acute ischemic and hemorrhagic stroke, they have emerged as major cause of age-related cognitive decline in asymptomatic individuals. A central histological finding in these pathologies is the disruption of the vessel architecture including thickening of the vessel wall, narrowing of the vessel lumen and massive expansion of the mural extracellular matrix. The underlying molecular mechanisms are largely unknown, but from the investigation of several disease forms with defined etiology, high temperature requirement protein A1 (HTRA1), a secreted serine protease degrading primarily matrisomal substrates, has emerged as critical factor and potential therapeutic target. A genetically induced loss of HTRA1 function in humans is associated with cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), a rare, hereditary form of brain microvascular disease. Recently, proteomic studies on cerebral amyloid angiopathy (CAA), a common cause of age-related dementia, and cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most prevalent monogenic small-vessel disease, have provided evidence for an impairment of HTRA1 activity through sequestration into pathological protein deposits, suggesting an alternative mechanism of HTRA1 inactivation and expanding the range of diseases with HTRA1 involvement. Further investigations of the mechanisms of HTRA1 regulation in the brain microvasculature might spawn novel strategies for the treatment of small-vessel pathologies.
脑微血管病变,通常被称为脑小血管疾病,是血管性痴呆的重要成因,而血管性痴呆是老龄化社会中第二常见的痴呆形式。除了在急性缺血性和出血性卒中中发挥作用外,它们还已成为无症状个体中与年龄相关的认知衰退的主要原因。这些病变的一个核心组织学发现是血管结构的破坏,包括血管壁增厚、管腔狭窄和壁细胞外基质的大量扩张。其潜在的分子机制在很大程度上尚不清楚,但通过对几种病因明确的疾病形式的研究,高温需求蛋白A1(HTRA1),一种主要降解基质体底物的分泌型丝氨酸蛋白酶,已成为关键因素和潜在的治疗靶点。人类中HTRA1功能的基因诱导缺失与伴有皮质下梗死和白质脑病的脑常染色体隐性动脉病(CARASIL)相关,CARASIL是一种罕见的遗传性脑微血管疾病。最近,对与年龄相关痴呆的常见病因——脑淀粉样血管病(CAA),以及最常见的单基因小血管疾病——伴有皮质下梗死和白质脑病的脑常染色体显性动脉病(CADASIL)的蛋白质组学研究表明,HTRA1活性通过被隔离到病理性蛋白质沉积物中而受损,这提示了HTRA1失活的另一种机制,并扩大了HTRA1所涉及的疾病范围。对脑微血管中HTRA1调节机制的进一步研究可能会催生治疗小血管病变的新策略。