The study of levels from redox-active elements in cerebrospinal fluid of amyotrophic lateral sclerosis patients carrying disease-related gene mutations shows potential copper dyshomeostasis.,Metallomics

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The study of levels from redox-active elements in cerebrospinal fluid of amyotrophic lateral sclerosis patients carrying disease-related gene mutations shows potential copper dyshomeostasis.
Metallomics ( IF 2.9 ) Pub Date : 2020-04-22 , DOI: 10.1039/d0mt00051e
Federica Violi ₁ , Nikolay Solovyev , Marco Vinceti , Jessica Mandrioli , Marianna Lucio , Bernhard Michalke

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Amyotrophic lateral sclerosis is a progressive neurodegenerative disease characterized by a loss of function of motor neurons. The etiology of this disorder is still largely unknown. Gene-environment interaction arises as a possible key factor in the development of amyotrophic lateral sclerosis. We assessed the levels of trace metals, copper (Cu), iron (Fe), and manganese (Mn), of 9 amyotrophic lateral sclerosis cases and 40 controls by measuring their content in cerebrospinal fluid. The following trace element species were quantified using ion chromatography-inductively coupled plasma mass spectrometry: univalent copper (Cu-I), divalent Cu (Cu-II), divalent Fe (Fe-II), trivalent Fe (Fe-III), divalent Mn (Mn-II), trivalent Mn (Mn-III), and also unidentified Mn species (Mn-unknown) were present in some samples. When computing the relative risks for amyotrophic lateral sclerosis through an unconditional logistic regression model, we observed a weak and imprecise positive association for iron (Fe III, adjusted odds ratio 1.48, 95% CI 0.46-4.76) and manganese (total-Mn and Mn-II; adjusted odds ratio 1.11, 95% CI 0.74-1.67, and 1.13, 95% CI 0.79-1.61, respectively). Increased risk for copper was found both in the crude analysis (odds ratio 1.14, 95% CI 0.99-1.31) and in multivariable analysis after adjusting for sex, age, and year of storage (1.09, 95% CI 0.90-1.32). Our results suggest a possible positive association between Cu and genetic amyotrophic lateral sclerosis, while they give little indication of involvement of Fe and Mn in disease, though some correlations found also for these elements deserve further investigation.

中文翻译：

对携带疾病相关基因突变的肌萎缩性侧索硬化患者脑脊液中氧化还原活性元素水平的研究显示了潜在的铜质动态平衡。

肌萎缩性侧索硬化症是一种进行性神经退行性疾病，其特征是运动神经元功能丧失。这种疾病的病因仍是未知之数。基因与环境的相互作用是肌萎缩性侧索硬化症发展的可能关键因素。我们通过测量9名肌萎缩性侧索硬化症病例和40名对照的脑脊液中的含量，评估了痕量金属，铜（Cu），铁（Fe）和锰（Mn）的水平。使用离子色谱-电感耦合等离子体质谱法对以下微量元素进行了定量：一价铜（Cu-I），二价Cu（Cu-II），二价Fe（Fe-II），三价Fe（Fe-III），二价某些样品中存在Mn（Mn-II），三价Mn（Mn-III）以及未知的Mn物种（Mn未知）。通过无条件逻辑回归模型计算肌萎缩性侧索硬化的相对风险时，我们观察到铁（Fe III，校正比值比1.48，95％CI 0.46-4.76）和锰（总锰和锰）的正相关性较弱和不精确-II；调整后的赔率比分别为1.11、95％CI 0.74-1.67和1.13、95％CI 0.79-1.61。在粗略分析（比值比为1.14，95％CI为0.99-1.31）和调整性别，年龄和储存年份（1.09，95％CI为0.90-1.32）后的多变量分析中，发现铜的风险均增加。我们的结果表明，铜与遗传性肌萎缩性侧索硬化症之间可能存在正相关关系，尽管它们几乎没有迹象表明铁和锰与疾病有关，但发现这些元素的某些相关性也值得进一步研究。

更新日期：2020-04-22

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