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循环游离DNA作为生物标志物的潜力:神经退行性疾病面临的机遇与挑战

The Potential of cfDNA as Biomarker: Opportunities and Challenges for Neurodegenerative Diseases.

作者信息

Aydın Şeyma, Özdemir Selçuk, Adıgüzel Ahmet

机构信息

Department of Genetics, Faculty of Veterinary Medicine, Atatürk University, Erzurum, Turkey.

Department of Molecular Biology and Genetics, Faculty of Science, Atatürk University, Erzurum, Turkey.

出版信息

J Mol Neurosci. 2025 Mar 13;75(1):34. doi: 10.1007/s12031-025-02317-8.

Abstract

Neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), and amyotrophic lateral sclerosis (ALS), are characterized by the progressive and gradual degeneration of neurons. The prevalence and rates of these disorders rise significantly with age. As life spans continue to increase in many countries, the number of cases is expected to grow in the foreseeable future. Early and precise diagnosis, along with appropriate surveillance, continues to pose a challenge. The high heterogeneity of neurodegenerative diseases calls for more accurate and definitive biomarkers to improve clinical therapy. Cell-free DNA (cfDNA), including fragmented DNA released into bodily fluids via apoptosis, necrosis, or active secretion, has emerged as a promising non-invasive diagnostic tool for various disorders including neurodegenerative diseases. cfDNA can serve as an indicator of ongoing cellular damage and mortality, including neuronal loss, and may provide valuable insights into disease processes, progression, and therapeutic responses. This review will first cover the key aspects of cfDNA and then examine recent advances in its potential use as a biomarker for neurodegenerative disorders.

摘要

神经退行性疾病,包括阿尔茨海默病(AD)、帕金森病(PD)、多发性硬化症(MS)和肌萎缩侧索硬化症(ALS),其特征是神经元进行性和逐渐退化。这些疾病的患病率和发病率随年龄显著上升。随着许多国家的寿命持续延长,预计在可预见的未来病例数量将会增加。早期准确诊断以及适当监测仍然是一项挑战。神经退行性疾病的高度异质性需要更准确和明确的生物标志物来改善临床治疗。游离DNA(cfDNA),包括通过凋亡、坏死或主动分泌释放到体液中的片段化DNA,已成为包括神经退行性疾病在内的各种疾病有前景的非侵入性诊断工具。cfDNA可作为正在进行的细胞损伤和死亡率(包括神经元丢失)的指标,并可能为疾病过程、进展和治疗反应提供有价值的见解。本综述将首先涵盖cfDNA的关键方面,然后探讨其作为神经退行性疾病生物标志物潜在用途的最新进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5d/11906534/e14270397e79/12031_2025_2317_Fig1_HTML.jpg

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