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Insights into the effects of disease-causing mutations in human actins

机译：洞察致病突变对人类行为的影响

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摘要

Mutations in all six actins in humans have now been shown to cause diseases. However, a number of factors have made it difficult to gain insight into how the changes in actin functions brought about by these pathogenic mutations result in the disease phenotype. These include the presence of multiple actins in the same cell, limited accessibility to pure mutant material, and complexities associated with the structures and their component cells that manifest the diseases. To try to circumvent these difficulties, investigators have turned to the use of model systems. This review describes these various approaches, the initial results obtained using them, and the insight they have provided into allosteric mechanisms that govern actin function. Although results so far have not explained a particular disease phenotype at the molecular level, they have provided valuable insight into actin function at the mechanistic level which can be utilized in the future to delineate the molecular bases of these different actinopathies.
机译：现在已经显示出人类所有六个肌动蛋白的突变都会导致疾病。然而，许多因素使人们难以深入了解由这些致病性突变引起的肌动蛋白功能改变如何导致疾病表型。这些包括在同一细胞中存在多种肌动蛋白，对纯突变体材料的可及性有限以及与显示疾病的结构及其组成细胞相关的复杂性。为了试图避免这些困难，研究人员已转向使用模型系统。这篇综述描述了这些不同的方法，使用它们获得的初步结果以及它们对控制肌动蛋白功能的变构机制的见解。尽管迄今为止的结果尚未在分子水平上解释特定的疾病表型，但它们已提供了对机械水平上的肌动蛋白功能的有价值的见解，可在将来用于描述这些不同的光化病的分子基础。

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