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抗氧化剂是否是 FSHD 的潜在治疗方法?文献综述。

Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature.

机构信息

Department of Physiology, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand.

出版信息

Oxid Med Cell Longev. 2017;2017:7020295. doi: 10.1155/2017/7020295. Epub 2017 Jun 12.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. It is a progressive disease characterised by skeletal muscle weakness and wasting. A genetic mutation on the 4q35 chromosome results in the expression of the double homeobox 4 gene (DUX4) which drives oxidative stress, inflammation, toxicity, and atrophy within the skeletal muscle. FSHD is characterised by oxidative stress, and there is currently no cure and a lack of therapies for the disease. Antioxidants have been researched for many years, with investigators aiming to use antioxidants therapeutically for oxidative stress-associated diseases. This has included both natural and synthetic antioxidants. The use of antioxidants in preclinical or clinical models has been largely successful with a plethora of research reporting positive results. However, when translated to clinical trials, the use of antioxidants as a therapeutic intervention for a variety of disease has been largely unsuccessful. Moreover, specifically focusing on FSHD, limited research has been conducted on the use of antioxidants as a therapy in either preclinical or clinical models. This review summarises the current state of antioxidant use in the treatment of FSHD and discusses their potential avenue for therapeutic use for FSHD patients.

摘要

面肩肱型肌营养不良症(FSHD)是一种遗传性肌病,影响全球约 7500 分之一的人群。它是一种进行性疾病,其特征是骨骼肌无力和萎缩。4q35 染色体上的基因突变导致双同源盒 4 基因(DUX4)的表达,从而导致骨骼肌中的氧化应激、炎症、毒性和萎缩。FSHD 的特征是氧化应激,目前尚无治愈方法,也缺乏针对该疾病的治疗方法。抗氧化剂已经研究了多年,研究人员旨在将抗氧化剂用于治疗与氧化应激相关的疾病。这包括天然和合成抗氧化剂。抗氧化剂在临床前或临床模型中的应用已取得很大成功,大量研究报告了积极的结果。然而,当将其转化为临床试验时,抗氧化剂作为治疗多种疾病的一种治疗干预措施的使用在很大程度上并不成功。此外,特别是针对 FSHD,在临床前或临床模型中作为治疗方法使用抗氧化剂的研究有限。这篇综述总结了抗氧化剂在治疗 FSHD 中的应用现状,并讨论了它们在 FSHD 患者治疗中的潜在应用途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c26/5485364/3fc1f9303c32/OMCL2017-7020295.001.jpg

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