Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past,present and future |
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| Affiliation: | 1. Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA, USA;2. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;3. Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, IA, USA;1. Departments of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA;2. Departments of Biology, And Pharmacology, The University of Iowa, Iowa City, IA, USA;3. Departments of Neuroscience and Pharmacology, The University of Iowa, Iowa City, IA, USA;4. Veterans Administration Center for the Prevention and Treatment of Visual Loss, Iowa City VA Healthcare System, Iowa City, IA, USA;1. Trinity Centre for Biomedical Engineering, Trinity Biomedical Sciences Institute, Trinity College Dublin, University of Dublin, Dublin, Ireland;2. Department of Mechanical, Manufacturing and Biomedical Engineering, School of Engineering, Trinity College Dublin, University of Dublin, Dublin, Ireland;1. R.S. Mehta Jain Department of Biochemistry and Cell Biology, KBIRVO Block, Vision Research Foundation, Sankara Nethralaya, Chennai, India;2. Smt Jadhavbai Nathmal Singhvee Glaucoma Services, Medical Research Foundation, Sankara Nethralaya, Chennai, India;3. School of Chemical and Biotechnology, SASTRA Deemed-to-be University, Thanjavur, India;1. Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil;2. Genetics Department, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil;3. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany;4. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;5. Pediatric Oncology Service, Hospital Santa Marcelina, São Paulo, Brazil;6. Department of Pediatric Oncology, Clinical Division, Instituto Nacional de Câncer, Rio de Janeiro, Brazil;7. INGEMM, Hospital La Paz, Universidad de Madrid, Madrid, Spain;8. CIBERER (Centro de Investigación Médica en Red de Enfermedades Raras), Madrid, Spain;9. ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain;10. Department of Ocular Oncology, Division of Surgery, Instituto Nacional de Câncer, Rio de Janeiro, Brazil;11. Birth Defects Epidemiology Laboratory, Instituto Oswaldo Cruz, Fiocruz, Rio de Janeiro, Brazil;12. Department of Genetics and Molecular Biology, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil;1. Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, 53575, USA;2. Duke Eye Center, Duke University, Durham, NC, USA;3. Department of Internal Medicine, Division of Hematology/Oncology, University of Iowa, Iowa City, IA, USA |
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| 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. |
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| Keywords: | Cilia Ciliopathies Bardet-Biedl syndrome Retinopathy eQTL |
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