Gao Ju, Ding Mao, Qin Siyue, Shukla Devanshi, Vicuna Lauren, Liang Jingjing, Wang Xinglong
Department of Pharmacology and Toxicology, College of Pharmacy, University of Arizona, Tucson, AZ, USA.
Department of Pharmacy Practice and Science, College of Pharmacy, University of Arizona, Tucson, AZ, USA.
Mol Psychiatry. 2025 Jun 25. doi: 10.1038/s41380-025-03089-8.
Alzheimer's disease (AD) and Alzheimer's disease-related dementias (ADRDs) are among the most prevalent neurodegenerative diseases, characterized by progressive cognitive decline driven by complex and overlapping pathological mechanisms. While amyloid plaques, neurofibrillary tangles, and Lewy bodies are well-established hallmarks, TAR DNA-binding protein 43 (TDP-43) pathology has emerged as a critical contributor to disease progression, particularly in cases exhibiting hippocampal sclerosis and severe brain atrophy. TDP-43 pathology is defined by its cytoplasmic mislocalization, aberrant aggregation, and nuclear depletion, leading to disruptions in RNA metabolism, stress granule dynamics, and mitochondrial function. Increasing evidence suggests that TDP-43 pathology not only exacerbates neuronal degeneration but also interacts with Aβ plaques, tau tangles, and α-synuclein aggregates, compounding neurodegenerative processes and accelerating cognitive decline. Despite its growing recognition, TDP-43 pathology remains underexplored compared to other proteinopathies in AD and ADRDs, highlighting the need for further mechanistic studies and targeted therapeutic development. In this review, we summarize the current understanding of TDP-43 pathology in AD and ADRDs, with a focus on its role in disease progression. We further discuss the molecular mechanisms underlying TDP-43-associated neurodegeneration in AD and ADRDs, emphasizing RNA dysregulation, mitochondrial dysfunction, disrupted protein homeostasis, stress response alternations, and nuclear-cytoplasmic transport impairments. Lastly, given the significant impact on disease pathology, we review ongoing efforts to treat TDP-43-associated neurodegeneration, including antisense oligonucleotides, small-molecule inhibitors, and peptide-based interventions aimed at restoring TDP-43 function or preventing its neurotoxicity and pathological aggregation.
阿尔茨海默病(AD)和阿尔茨海默病相关痴呆症(ADRDs)是最常见的神经退行性疾病之一,其特征是由复杂且相互重叠的病理机制驱动的进行性认知衰退。虽然淀粉样斑块、神经原纤维缠结和路易小体是公认的标志性病变,但TAR DNA结合蛋白43(TDP-43)病理已成为疾病进展的关键因素,尤其是在表现出海马硬化和严重脑萎缩的病例中。TDP-43病理的定义是其在细胞质中的错误定位、异常聚集和核内缺失,导致RNA代谢、应激颗粒动态和线粒体功能紊乱。越来越多的证据表明,TDP-43病理不仅会加剧神经元变性,还会与Aβ斑块、tau缠结和α-突触核蛋白聚集体相互作用,使神经退行性过程复杂化并加速认知衰退。尽管其认可度不断提高,但与AD和ADRDs中的其他蛋白病相比,TDP-43病理仍未得到充分研究,这凸显了进一步进行机制研究和针对性治疗开发的必要性。在本综述中,我们总结了目前对AD和ADRDs中TDP-43病理的理解,重点关注其在疾病进展中的作用。我们进一步讨论了AD和ADRDs中TDP-43相关神经变性的分子机制,强调了RNA失调、线粒体功能障碍、蛋白质稳态破坏、应激反应改变和核质运输受损。最后,鉴于对疾病病理的重大影响,我们回顾了目前治疗TDP-43相关神经变性的努力,包括反义寡核苷酸、小分子抑制剂和基于肽的干预措施,旨在恢复TDP-43功能或预防其神经毒性和病理聚集。