Zuo Xinxin
Aging Dis. 2025 Apr 8. doi: 10.14336/AD.2025.0189.
Down syndrome (DS), caused by trisomy of chromosome 21 (HSA21), is a complex condition associated with neurodevelopmental impairments and accelerated brain aging, often culminating in early-onset Alzheimer's disease (AD). Central to this accelerated aging is mitochondrial imbalance, characterized by disrupted energy metabolism, increased oxidative stress, impaired dynamics, and defective quality control mechanisms like mitophagy. These abnormalities exacerbate neuronal vulnerability, driving cognitive decline and neurodegeneration. This review examines the genetic and biochemical underpinnings of mitochondrial dysfunction in DS, with a focus on the role of HSA21-encoded genes. We also highlight how mitochondrial dysfunction, amplified by oxidative stress and HSA21 gene dosage effects, converges with cellular senescence and neuroinflammation to accelerate Alzheimer-like pathology and brain aging in DS. Finally, we discuss emerging therapeutic strategies targeting mitochondrial pathways, which hold promise for mitigating neurodegenerative phenotypes and improving outcomes in DS.
唐氏综合征(DS)由21号染色体(HSA21)三体性引起,是一种与神经发育障碍和脑衰老加速相关的复杂病症,常最终导致早发性阿尔茨海默病(AD)。这种加速衰老的核心是线粒体失衡,其特征为能量代谢紊乱、氧化应激增加、动力学受损以及诸如线粒体自噬等质量控制机制存在缺陷。这些异常加剧了神经元的脆弱性,导致认知能力下降和神经退行性变。本综述探讨了DS中线粒体功能障碍的遗传和生化基础,重点关注HSA21编码基因的作用。我们还强调了线粒体功能障碍如何在氧化应激和HSA21基因剂量效应的放大作用下,与细胞衰老和神经炎症相互作用,加速DS中阿尔茨海默样病理变化和脑衰老。最后,我们讨论了针对线粒体途径的新兴治疗策略,这些策略有望减轻神经退行性表型并改善DS的治疗效果。