Institute of Biochemistry and Biophysics Polish Academy of Sciences, 02-106 Warsaw, Poland.
Neuromuscular Unit, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Int J Mol Sci. 2022 May 4;23(9):5106. doi: 10.3390/ijms23095106.
Mutations in human genes result in rare neurological diseases, including chorea-acanthocytosis. The pathogenesis of these diseases is poorly understood, and no effective treatment is available. As genes are evolutionarily conserved, the effects of the pathogenic mutations could be studied in model organisms, including yeast, where one gene is present. In this review, we summarize advancements obtained using yeast. In recent studies, Δ and yeast mutants, which are models of chorea-acanthocytosis, were used to screen for multicopy and chemical suppressors. Two of the suppressors, a fragment of the and genes, act by downregulating calcineurin activity. In addition, Δ suppression was achieved by using calcineurin inhibitors. The other group of multicopy suppressors were genes: encoding iron transporter, and , and , encoding copper transporters. Mechanisms of their suppression rely on causing an increase in the intracellular iron content. Moreover, among the identified chemical suppressors were copper ionophores, which require a functional iron uptake system for activity, and flavonoids, which bind iron. These findings point at areas for further investigation in a higher eukaryotic model of -related diseases and to new therapeutic targets: calcium signalling and copper and iron homeostasis. Furthermore, the identified drugs are interesting candidates for drug repurposing for these diseases.
人类基因突变会导致罕见的神经疾病,包括舞蹈棘红细胞增多症。这些疾病的发病机制尚未完全阐明,也没有有效的治疗方法。由于基因在进化上是保守的,因此可以在包括酵母在内的模型生物中研究致病突变的影响,酵母中只存在一个 基因。在这篇综述中,我们总结了利用酵母获得的进展。在最近的研究中,Δ和 酵母突变体作为舞蹈棘红细胞增多症的模型,被用于筛选多拷贝和化学抑制剂。两种抑制剂之一,即 和 基因的片段,通过下调钙调神经磷酸酶的活性发挥作用。此外,还可以通过使用钙调神经磷酸酶抑制剂来抑制 Δ。另一组多拷贝抑制剂是基因:编码铁转运蛋白, 和 、 、 编码铜转运蛋白。它们抑制的机制依赖于增加细胞内铁含量。此外,鉴定出的化学抑制剂包括铜载体,其活性需要一个功能正常的铁摄取系统,以及黄酮类化合物,它们与铁结合。这些发现为进一步研究与 相关疾病的高等真核模型以及新的治疗靶点指明了方向:钙信号和铜铁动态平衡。此外,鉴定出的药物是这些疾病药物再利用的有前途的候选药物。