Biometals ( IF 4.1 ) Pub Date : 2021-06-05 , DOI: 10.1007/s10534-021-00320-1 Karo Talvio 1 , Katja M Kanninen 2 , Anthony R White 3, 4 , Jari Koistinaho 2, 5 , Maija L Castrén 1
Trace elements have important functions in several processes involved in cellular homeostasis and survival. Dysfunctional metal ion homeostasis can make an important impact on cellular defence mechanisms. We assessed the concentrations of 23 trace minerals in different tissues (brain, spleen, heart and liver) of Fmr1 knockout (KO) mice that display the main phenotype of Fragile X syndrome (FXS), an intellectual disability syndrome and the best-known monogenic model of autism spectrum disorder (ASD). Altogether, seven minerals—Cu, Fe, K, Mg, Mn, Na, and P—were above the detection limit with the analysis revealing increased iron content in the heart of Fmr1 KO mice. In addition, levels of iron were higher in the cerebellum of the transgenic mouse when compared to wild type controls. These results implicate a role for dysregulated iron homeostasis in FXS tissues and suggest that defective iron-related mechanisms contribute to increased tissue vulnerability in FXS.
中文翻译:
Fmr1 基因敲除小鼠心脏中铁含量增加
微量元素在涉及细胞稳态和生存的几个过程中具有重要作用。功能失调的金属离子稳态会对细胞防御机制产生重要影响。我们评估了Fmr1敲除 (KO) 小鼠不同组织(大脑、脾脏、心脏和肝脏)中 23 种微量矿物质的浓度,这些小鼠表现出脆性 X 综合征 (FXS)、智力残疾综合征和最著名的单基因的主要表型自闭症谱系障碍(ASD)模型。总共有七种矿物质——Cu、Fe、K、Mg、Mn、Na 和 P——超过了检测限,分析显示Fmr1中心的铁含量增加KO小鼠。此外,与野生型对照相比,转基因小鼠小脑中的铁水平更高。这些结果暗示了 FXS 组织中铁稳态失调的作用,并表明有缺陷的铁相关机制导致 FXS 组织易损性增加。