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肌萎缩侧索硬化症和脊髓性肌萎缩症的基因治疗:进展、挑战与展望。

Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives.

机构信息

Student Scientific Society, Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.

Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.

出版信息

Int J Mol Sci. 2023 Jan 6;24(2):1130. doi: 10.3390/ijms24021130.

Abstract

Gene therapy is defined as the administration of genetic material to modify, manipulate gene expression or alter the properties of living cells for therapeutic purposes. Recent advances and improvements in this field have led to many breakthroughs in the treatment of various diseases. As a result, there has been an increasing interest in the use of these therapies to treat motor neuron diseases (MNDs), for which many potential molecular targets have been discovered. MNDs are neurodegenerative disorders that, in their most severe forms, can lead to respiratory failure and death, for instance, spinal muscular atrophy (SMA) or amyotrophic lateral sclerosis (ALS). Despite the fact that SMA has been known for many years, it is still one of the most common genetic diseases causing infant mortality. The introduction of drugs based on ASOs-nusinersen; small molecules-risdiplam; and replacement therapy (GRT)-Zolgensma has shown a significant improvement in both event-free survival and the quality of life of patients after using these therapies in the available trial results. Although there is still no drug that would effectively alleviate the course of the disease in ALS, the experience gained from SMA gene therapy gives hope for a positive outcome of the efforts to produce an effective and safe drug. The aim of this review is to present current progress and prospects for the use of gene therapy in the treatment of both SMA and ALS.

摘要

基因治疗是指为了治疗目的,将遗传物质递送给活体细胞,以修饰、操作基因表达或改变细胞的特性。该领域的最新进展和改进为治疗各种疾病带来了许多突破。因此,人们越来越感兴趣地将这些疗法用于治疗运动神经元疾病(MNDs),因为已经发现了许多潜在的分子靶点。MNDs 是神经退行性疾病,在其最严重的形式下,可能导致呼吸衰竭和死亡,例如脊髓性肌萎缩症(SMA)或肌萎缩侧索硬化症(ALS)。尽管 SMA 多年来已为人所知,但它仍然是导致婴儿死亡的最常见遗传疾病之一。基于 ASO-nusinersen、小分子-risdiplam 和替代疗法(GRT)-Zolgensma 的药物的引入,在现有试验结果中使用这些疗法后,在无事件生存和患者生活质量方面都有显著改善。尽管仍然没有药物可以有效缓解 ALS 疾病的进程,但从 SMA 基因治疗中获得的经验为开发有效和安全的药物的努力带来了积极的结果。本文旨在介绍基因治疗在治疗 SMA 和 ALS 方面的最新进展和前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be5e/9860634/535d99e250a0/ijms-24-01130-g001.jpg

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