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非编码RNA在肌萎缩侧索硬化症中的作用。

The Role of Non-Coding RNAs in ALS.

作者信息

Falduti Alessandra, Giovinazzo Adele, Lo Feudo Elisa, Rocca Valentina, Brighina Filippo, Messina Angela, Conforti Francesca Luisa, Iuliano Rodolfo

机构信息

Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.

Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.

出版信息

Genes (Basel). 2025 May 23;16(6):623. doi: 10.3390/genes16060623.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventually death. The pathogenesis of ALS is influenced by genetic factors, environmental factors, and age-related dysfunctions. These factors, taken together, are responsible for sporadic cases of ALS, which account for approximately 85-90% of ALS cases, while familial ALS accounts for the remaining 10-15% of cases, usually with dominant traits. Despite advances in understanding and studying the disease, the cause of the onset of ALS remains unknown. Emerging evidence suggests that non-coding RNAs, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), play crucial roles in the pathogenesis of the disease. An abnormal expression of these molecules is implicated in various ALS-related processes, including motor neuron survival, protein aggregation, and inflammation. Here, we describe the dysregulation of non-coding RNAs in the pathogenic mechanism of ALS, highlighting the potential roles of miRNAs, lncRNAs, and circRNAs as biomarkers or therapeutic targets to examine the progression of the disease.

摘要

肌萎缩侧索硬化症(ALS)是一种进行性神经退行性疾病,会影响运动神经元,导致肌肉无力、瘫痪,并最终导致死亡。ALS的发病机制受遗传因素、环境因素和与年龄相关的功能障碍影响。这些因素共同导致了散发性ALS病例,约占ALS病例的85-90%,而家族性ALS占其余10-15%的病例,通常具有显性特征。尽管在理解和研究该疾病方面取得了进展,但ALS发病的原因仍然未知。新出现的证据表明,非编码RNA,包括微小RNA(miRNA)、长链非编码RNA(lncRNA)和环状RNA(circRNA),在该疾病的发病机制中起关键作用。这些分子的异常表达与各种ALS相关过程有关,包括运动神经元存活、蛋白质聚集和炎症。在这里,我们描述了非编码RNA在ALS致病机制中的失调,强调了miRNA、lncRNA和circRNA作为生物标志物或治疗靶点在检测疾病进展中的潜在作用。

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