An Examination of the Mechanisms and Treatments of Ciliopathies Triggered by Genes dlg5 and rnf20

Abstract

In the current society, ciliopathies continue, without fail, to impact a small, but existing portion of the public; classified as a genetic birth defect from mutations in ciliary genes, ciliopathies highly affect the younger generations, indicating an urgency for focus on progressive research in the field. Due to the vast number of possible genetic mutations, this paper centers on a select set of genetic mutations, dlg5 and rnf20, due to the varied amount of mutations that may be cause damage and the variety organs in the body that are impacted when the genes are mutated. The varied characteristics of each gene contribute to mutations developing a specific phenotype, depending on the ciliary aspect and tissue affected; this paper is sought to highlight the increased variability of ciliopathies. Current ciliopathy treatment methods are also investigated, identifying gaps existent and successes, focusing upon genetic therapy advances. Treatment methods are applied to dlg5 and rnf20, as the author proposes effective modes through which increased focus should be applied to devise treatments, in consideration with drawbacks that had been evident which finding treatments for general ciliopathies.