弗里德赖希共济失调：现状与未来展望
Friedreich Ataxia: current status and future prospects.
作者信息
Bürk Katrin
机构信息
University of Marburg, and Paracelsus-Elena Klinik, Klinikstr. 16, 34128 Kassel, Germany.
出版信息
Cerebellum Ataxias. 2017 Apr 7;4:4. doi: 10.1186/s40673-017-0062-x. eCollection 2017.
Abstract
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies.
摘要
弗里德赖希共济失调（FA）是最常见的遗传性共济失调类型。大多数患者在9号染色体上的铁调素基因的第一个内含子中携带纯合的GAA重复序列。由于表观遗传改变，铁调素的表达显著降低。铁调素是一种线粒体蛋白。其缺乏会导致线粒体铁过载、能量供应缺陷和活性氧的产生。本文综述了FA的临床和遗传方面，并讨论了铁调素生物合成和功能的当前概念以及新的治疗策略。
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