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进步的根源:利用诱导多能干细胞模型揭示小脑共济失调

Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models.

作者信息

Giacich Michela, Naef Valentina, Santorelli Filippo Maria, Damiani Devid

机构信息

Neurobiology and Molecular Medicine Units, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.

出版信息

Biomedicines. 2025 Aug 30;13(9):2121. doi: 10.3390/biomedicines13092121.

Abstract

The inaccessibility of human cerebellar tissue and the complexity of its development have historically hindered the study of cerebellar ataxias, a genetically diverse group of neurodegenerative disorders. Induced pluripotent stem cell (iPSC) technology offers a powerful solution, enabling the generation of patient-specific cerebellar models that retain individual genetic backgrounds. This review examines recent progress in iPSC-derived cerebellar models and their application in relation to major hereditary ataxias, including Friedreich's ataxia, ataxia-telangiectasia, and spinocerebellar ataxias (SCAs). These models have provided valuable insights into disease mechanisms and supported the development of therapeutic strategies, such as gene therapy and high-throughput drug screening. However, challenges remain, particularly in achieving the full maturation of cerebellar cell types and incorporating microglial interactions. Moreover, emerging evidence suggests that neurodevelopmental alterations may act as early contributors to degeneration. Despite the current limitations, the advancement of patient-derived iPSC cerebellar models holds great promise for uncovering novel disease pathways and for driving precision medicine approaches in cerebellar ataxia research.

摘要

人类小脑组织难以获取以及其发育的复杂性,长期以来一直阻碍着对小脑共济失调的研究,小脑共济失调是一组遗传多样性的神经退行性疾病。诱导多能干细胞(iPSC)技术提供了一个强大的解决方案,能够生成保留个体遗传背景的患者特异性小脑模型。本综述探讨了iPSC衍生的小脑模型的最新进展及其在主要遗传性共济失调中的应用,包括弗里德赖希共济失调、共济失调毛细血管扩张症和脊髓小脑共济失调(SCA)。这些模型为疾病机制提供了有价值的见解,并支持了基因治疗和高通量药物筛选等治疗策略的发展。然而,挑战依然存在,特别是在实现小脑细胞类型的完全成熟以及纳入小胶质细胞相互作用方面。此外,新出现的证据表明,神经发育改变可能是退化的早期促成因素。尽管存在当前的局限性,但患者来源的iPSC小脑模型的进展对于揭示新的疾病途径以及推动小脑共济失调研究中的精准医学方法具有巨大潜力。

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