Journal article
Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future
Progress in retinal and eye research, Vol.89, 101035
12/2021
DOI: 10.1016/j.preteyeres.2021.101035
Abstract
The primary cilium is a highly specialized and evolutionary conserved organelle in eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few decades tremendous progress has been made in understanding the physiology of cilia and the underlying pathomechanisms of various ciliopathies. Syndromic ciliopathies consist of a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis. These disorders have multiorgan involvement in addition to retinal degeneration underscoring the ubiquitous distribution of primary cilia in different cell types. Genotype-phenotype correlation is often challenging due to the allelic heterogeneity and pleiotropy of these disorders. In this review, we discuss the clinical and genetic features of syndromic ciliopathies with a focus on Bardet-Biedl syndrome (BBS) as a representative disorder. We discuss the structure and function of primary cilia and their role in retinal photoreceptors. We describe the progress made thus far in understanding the functional and genetic characterization including expression quantitative trait locus (eQTL) analysis of BBS genes. In the future directions section, we discuss the emerging technologies, such as gene therapy, as well as anticipated challenges and their implications in therapeutic development for ciliopathies.
Details
- Title: Subtitle
- Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future
- Creators
- Bharatendu Chandra - University of IowaMoon Ley Tung - University of IowaYing Hsu - University of IowaTodd Scheetz - University of Iowa, Ophthalmology and Visual SciencesVal C Sheffield - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Progress in retinal and eye research, Vol.89, 101035
- Publisher
- Elsevier Ltd
- DOI
- 10.1016/j.preteyeres.2021.101035
- ISSN
- 1350-9462
- eISSN
- 1873-1635
- Grant note
- DOI: 10.13039/100000002, name: National Institutes of Health; DOI: 10.13039/100000011, name: Howard Hughes Medical Institute; DOI: 10.13039/100001024, name: Roy J. Carver Charitable Trust; DOI: 10.13039/100015515, name: University of Iowa Roy J and Lucille A Carver College of Medicine
- Language
- English
- Date published
- 12/2021
- Academic Unit
- Ophthalmology and Visual Sciences; Electrical and Computer Engineering; Roy J. Carver Department of Biomedical Engineering; Iowa Neuroscience Institute; Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984202248102771
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