Friedreich's ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein. Insufficient frataxin levels leads to iron and copper deposits in the brain and cardiac cells. A total of hundred and twenty patients, suspected of FRDA were screened for the (GAA) repeats in the fxn gene and only confirmed patients (n = 25) were recruited in the study. The total Iron and total copper concentrations were measured in blood plasma using Nitro PAPS and Dibrom PAESA method, respectively both in patients and age, sex matched healthy controls. The iron levels mean ± SD (6.2 ± 3.8) in plasma of FRDA patients were found to be significantly decreased as compared to healthy controls mean ± SD (15.2 ± 4.2). A similar trend was observed in case of plasma copper levels in FRDA patient (8.15 ± 4.6) as compared to controls (17.5 ± 3.40). Present results clearly prove abnormal distribution of extra-cellular iron in FRDA patients, which is in accordance with the well established fact of intracellular iron overload, which is the key feature of the pathogenesis of this disease. This can be of importance in understanding the pathophysiology of the disease in association with frataxin/iron. It appears that intracellular sequestration of trace metals in FRDA patients (due to low frataxin) results in their sub-optimal levels in blood plasma (extra-cellular) an observation that can find prognostic application in clinical trials.

中文翻译：

---

弗雷德里希共济失调患者中铁和铜的无细胞水平评估。

弗里德里希共济失调（FRDA）是由三核苷酸（GAA）导致的frataxin（fxn）基因重复扩增引起的神经退行性疾病，导致frataxin蛋白水平降低。frataxin水平不足会导致大脑和心脏细胞中铁和铜沉积。筛查了fxn基因中（GAA）重复的120名疑似FRDA的患者，仅招募了确诊的患者（n = 25）。使用Nitro PAPS和Dibrom PAESA方法分别测量了患者和年龄，性别匹配的健康对照者血浆中的总铁和总铜浓度。发现FRDA患者血浆中的铁水平平均值±SD（6.2±3.8）与健康对照组平均值±SD（15.2±4.2）相比明显降低。与对照组（17.5±3.40）相比，FRDA患者血浆铜水平（8.15±4.6）观察到类似趋势。目前的结果清楚地证明了FRDA患者中细胞外铁的异常分布，这与公认的细胞内铁超载事实相符，这是该疾病发病机理的关键特征。这对于了解与frataxin /铁有关的疾病的病理生理学可能很重要。FRDA患者中的痕量金属在细胞内螯合（由于低的frataxin）导致血浆（细胞外）的血浆水平低于最佳水平，这一发现可以在临床试验中发现预后。目前的结果清楚地证明了FRDA患者中细胞外铁的异常分布，这与公认的细胞内铁超载事实相符，这是该疾病发病机理的关键特征。这对于了解与frataxin /铁有关的疾病的病理生理学可能很重要。FRDA患者中的痕量金属在细胞内螯合（由于低的frataxin）导致血浆（细胞外）的血浆水平低于最佳水平，这一发现可以在临床试验中发现预后。目前的结果清楚地证明了FRDA患者中细胞外铁的异常分布，这与公认的细胞内铁超载事实相符，这是该疾病发病机理的关键特征。这对于了解与frataxin /铁有关的疾病的病理生理学可能很重要。FRDA患者中的痕量金属在细胞内螯合（由于低的frataxin）导致血浆（细胞外）的血浆水平低于最佳水平，这一发现可以在临床试验中发现预后。这对于了解与frataxin /铁有关的疾病的病理生理学可能很重要。FRDA患者中的痕量金属在细胞内螯合（由于低的frataxin）导致血浆（细胞外）的血浆水平低于最佳水平，这一发现可以在临床试验中发现预后。这对于了解与frataxin /铁有关的疾病的病理生理学可能很重要。FRDA患者中的痕量金属在细胞内螯合（由于低的frataxin）导致血浆（细胞外）的血浆水平低于最佳水平，这一发现可以在临床试验中发现预后。