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弗里德赖希共济失调:新见解

Friedreich's ataxia: new insights.

作者信息

Krasilnikova Maria M, Humphries Casey L, Shinsky Emily M

机构信息

Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, U.S.A.

出版信息

Emerg Top Life Sci. 2023 Dec 14;7(3):313-323. doi: 10.1042/ETLS20230017.

Abstract

Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular mechanism of the disease over the last few years and latest treatment strategies focused on overcoming the frataxin deficiency.

摘要

弗里德赖希共济失调(FRDA)是一种遗传性疾病,通常由编码frataxin的FXN基因第一个内含子内的GAA重复序列扩增引起。这导致了frataxin缺乏,主要影响肌肉、神经和心血管系统,症状多年来逐渐恶化。本综述总结了过去几年在了解该疾病分子机制方面取得的最新进展以及专注于克服frataxin缺乏的最新治疗策略。

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