Key result
Model systems have provided valuable mechanistic insights into allosteric mechanisms governing actin function, which can be utilized to delineate the molecular bases of actinopathies.
This review highlights how model systems provide mechanistic insights into allosteric mechanisms governing actin function, aiding future research on actinopathies.
May inform actinopathy therapies; extends model insights but leaves open clinical translation.
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.
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Rubenstein et al. (2014) conducted a review in Actinopathies (diseases caused by mutations in human actins). Model systems for studying actin mutations was evaluated. Model systems have provided valuable mechanistic insights into allosteric mechanisms governing actin function, which can be utilized to delineate the molecular bases of actinopathies.
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