For a study, researchers understand that the primary cilium was an extremely specialized organelle found in eukaryotes that have undergone evolutionary conservation. Cell communication and trafficking it was crucial. Their knowledge of the physiology of cilia and the underlying pathomechanisms of various ciliopathies had significantly advanced in recent years. Ciliary dysfunction or abnormal ciliogenesis were the causes of a group of disorders known as syndromic ciliopathies. These illnesses not only result in retinal degeneration but also impact a number of other organs, showing how widely distributed primary cilia were in different cell types. The difficulty in associating genotype and phenotype was commonly brought on by the allelic heterogeneity and pleiotropy of many disorders. In this study, they investigated the clinical and genetic features of syndromic ciliopathies using Bardet-Biedl syndrome (BBS) as a model disorder. They discussed the anatomy, function, and impact of primary cilia on retinal photoreceptors. They also discussed how eQTL (expression quantitative trait locus) investigation has advanced their understanding of the genetic make-up and functional characterization of BBS genes. In the section on future directions, they discuss emerging technologies like gene therapy as well as predicted challenges and how they can influence the development of efficient ciliopathies treatments.

Source: sciencedirect.com/science/article/abs/pii/S1350946221000963