PDF(Pubmed)
Abstract：
Friedreich\'s ataxia (FRDA) is a progressive neurodegenerative disease caused in almost all patients by expanded guanine-adenine-adenine (GAA) trinucleotide repeats within intron 1 of the FXN gene. This results in a relative deficiency of frataxin, a small nucleus-encoded mitochondrial protein crucial for iron-sulfur cluster biogenesis. Currently, there is only one medication, omaveloxolone, available for FRDA patients, and it is limited to patients 16 years of age and older. This necessitates the development of new medications. Frataxin restoration is one of the main strategies in potential treatment options as it addresses the root cause of the disease. Comprehending the control of frataxin at the transcriptional, post-transcriptional, and post-translational stages could offer potential therapeutic approaches for addressing the illness. This review aims to provide a general overview of the regulation of frataxin and its implications for a possible therapeutic treatment of FRDA.
摘要：
Friedreich共济失调（FRDA）是一种进行性神经退行性疾病，几乎所有患者都是由FXN基因内含子1内扩大的鸟嘌呤-腺嘌呤-腺嘌呤（GAA）三核苷酸重复序列引起的。这导致共济失调蛋白的相对缺乏，一种小核编码的线粒体蛋白，对铁硫簇生物合成至关重要。目前,只有一种药物，奥马维洛酮,适用于FRDA患者，仅限于16岁及以上的患者。这就需要开发新的药物。Frataxin恢复是潜在治疗选择的主要策略之一，因为它解决了疾病的根本原因。理解共济失调蛋白在转录上的控制，转录后，翻译后阶段可以为解决疾病提供潜在的治疗方法。这篇综述旨在概述共济失调素的调节及其对FRDA可能的治疗性治疗的意义。
