弗拉塔辛
共济失调
医学
疾病
构音障碍
生物信息学
神经科学
病理
内科学
生物
精神科
铁结合蛋白
转铁蛋白
作者
Victoria Profeta,Kellie McIntyre,McKenzie Wells,Courtney Park,David R. Lynch
标识
DOI:10.1080/13543784.2023.2173063
摘要
Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally vision loss in late-stage disease. The discovery of the abnormal gene in FRDA and its product frataxin has provided insight into the pathophysiology and mechanisms of treatment.Although the neurologic phenotype of FRDA is well defined, there are currently no established pharmacological treatments. Omaveloxolone, a nuclear factor erythroid 2-related factor 2 (Nrf2) activator, is currently under review by the Food and Drug Administration (FDA) and has the potential to be the first approved treatment for FRDA. In the present report, we have reviewed the basic and clinical literature on Nrf2 deficiency in FRDA, and evidence for the benefit of omaveloxolone.The present perspective suggests that omaveloxolone is a rational and efficacious therapy that is possibly disease modifying in treatment of FRDA.
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