Lynch David R, Deutsch Eric C, Wilson Robert B, Tennekoon Gihan
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
J Child Neurol. 2012 Sep;27(9):1223-9. doi: 10.1177/0883073812453498. Epub 2012 Jul 25.
During the past 15 years, the pace of research advancement in Friedreich ataxia has been rapid. The abnormal gene has been discovered and its gene product characterized, leading to the development of new evidence-based therapies. Still, various unsettled issues remain that affect clinical trials. These include the level of frataxin deficiency needed to cause disease, the mechanism by which frataxin-deficient mitochondrial dysfunction leads to symptomatology, and the reason selected cells are most affected in Friedreich ataxia. In this review, we summarize these questions and propose testable hypotheses for their resolution.
在过去15年里，弗里德赖希共济失调的研究进展迅速。异常基因已被发现，其基因产物也得到了表征，从而催生出了新的循证疗法。然而，仍存在各种尚未解决的问题影响着临床试验。这些问题包括导致疾病所需的frataxin缺乏水平、frataxin缺乏引起的线粒体功能障碍导致症状的机制，以及弗里德赖希共济失调中特定细胞受影响最严重的原因。在这篇综述中，我们总结了这些问题，并提出了可供检验的假说来解决这些问题。
