Prasad Hari, Rao Rajini
Centre for Brain Research, Indian Institute of Science Campus, Bengaluru, Karnataka 560012, India.
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, United States.
FEMS Yeast Res. 2025 Jan 30;25. doi: 10.1093/femsyr/foaf034.
Although endo-lysosomal abnormalities have been recognized as a pathognomonic feature of Alzheimer's disease, the lack of druggable targets has hampered the translation from bench to bedside. This article provides an overview of the insights gained from yeast research with a focus on understudied luminal acidification mechanisms and their major impact on disease progression. The yeast-to-human discovery and validation strategy identified a "druggable" triad featuring luminal pH, sterol content, and trafficking that (dys)regulate reciprocally. Endosomal Na+/H+ exchangers (eNHE), discovered in yeast and later described in mammals, provide independent support for this pathogenic model. The brain is often the most severely affected organ in patients with eNHE mutations, and a subset is causally linked to progressive and severe neurodegeneration, demonstrating that neurons heavily rely on fine-tuning of endosomal pH. We present recent advances on the role of eNHE in ageing related neurodegenerative diseases, which has implications for pathogenesis and therapy. Future studies should unravel the broader landscape of endo-lysosomal pH in neurodegenerative diseases. Given that pharmacologic correction of luminal hyperacidification defect completely ameliorates endo-lysosomal deficits in eNHE deletion yeast, there is compelling reason to believe that efforts to target endo-lysosomal acid-base homeostasis will eventually lead to novel therapeutic approaches for neurodegenerative diseases.
尽管内溶酶体异常已被公认为是阿尔茨海默病的一个特征性病理表现,但缺乏可成药靶点阻碍了从实验室到临床的转化。本文概述了从酵母研究中获得的见解,重点关注研究较少的腔内酸化机制及其对疾病进展的主要影响。酵母到人类的发现和验证策略确定了一个“可成药”三联体,其特征是腔内pH值、固醇含量和转运相互(失调)调节。在内体中发现的Na+/H+交换体(eNHE),最初在酵母中发现,后来在哺乳动物中也有描述,为这种致病模型提供了独立支持。在患有eNHE突变的患者中,大脑往往是受影响最严重的器官,其中一部分与进行性严重神经退行性变有因果关系,这表明神经元严重依赖内体pH值的微调。我们介绍了eNHE在衰老相关神经退行性疾病中的作用的最新进展,这对发病机制和治疗具有启示意义。未来的研究应该揭示神经退行性疾病中内溶酶体pH值的更广泛情况。鉴于腔内过度酸化缺陷的药理学纠正完全改善了eNHE缺失酵母中的内溶酶体缺陷,我们有充分的理由相信,针对内溶酶体酸碱平衡的努力最终将导致神经退行性疾病的新治疗方法。