Institute for Biomedical Research and Innovation, National Research Council (IRIB-CNR), 87050 Mangone, CS, Italy.
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, CS, Italy.
Int J Mol Sci. 2024 May 31;25(11):6062. doi: 10.3390/ijms25116062.
Neurodegenerative diseases are progressive disorders that affect the central nervous system (CNS) and represent the major cause of premature death in the elderly. One of the possible determinants of neurodegeneration is the change in mitochondrial function and content. Altered levels of mitochondrial DNA copy number (mtDNA-CN) in biological fluids have been reported during both the early stages and progression of the diseases. In patients affected by neurodegenerative diseases, changes in mtDNA-CN levels appear to correlate with mitochondrial dysfunction, cognitive decline, disease progression, and ultimately therapeutic interventions. In this review, we report the main results published up to April 2024, regarding the evaluation of mtDNA-CN levels in blood samples from patients affected by Alzheimer's (AD), Parkinson's (PD), and Huntington's diseases (HD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS). The aim is to show a probable link between mtDNA-CN changes and neurodegenerative disorders. Understanding the causes underlying this association could provide useful information on the molecular mechanisms involved in neurodegeneration and offer the development of new diagnostic approaches and therapeutic interventions.
神经退行性疾病是影响中枢神经系统 (CNS) 的进行性疾病，是老年人过早死亡的主要原因之一。线粒体功能和含量的变化是神经退行性变的一个可能决定因素。在疾病的早期阶段和进展过程中，生物液中的线粒体 DNA 拷贝数 (mtDNA-CN) 水平发生变化已被报道。在受神经退行性疾病影响的患者中，mtDNA-CN 水平的变化似乎与线粒体功能障碍、认知能力下降、疾病进展以及最终的治疗干预相关。在这篇综述中，我们报告了截至 2024 年 4 月发表的主要结果，涉及评估受阿尔茨海默病 (AD)、帕金森病 (PD) 和亨廷顿病 (HD)、肌萎缩侧索硬化症 (ALS) 和多发性硬化症 (MS) 影响的患者血液样本中的 mtDNA-CN 水平。目的是展示 mtDNA-CN 变化与神经退行性疾病之间可能存在的联系。了解这种关联的潜在原因可以为涉及神经退行性变的分子机制提供有用信息，并为开发新的诊断方法和治疗干预措施提供依据。
