Singh Grewal, S;
Smith, JJ;
Carr, A-JF;
(2021)
Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies.
Therapeutic Advances in Ophthalmology
, 13
10.1177/2515841421997191.
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Abstract
Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that typically affect the macular region, an area synonymous with central high acuity vision. This spectrum of disorders is caused by mutations in bestrophin1 (BEST1), a protein thought to act as a Ca2+-activated Cl- channel in the retinal pigment epithelium (RPE) of the eye. Although bestrophinopathies are rare, over 250 individual pathological mutations have been identified in the BEST1 gene, with many reported to have various clinical expressivity and incomplete penetrance. With no current clinical treatments available for patients with bestrophinopathies, understanding the role of BEST1 in cells and the pathological pathways underlying disease has become a priority. Induced pluripotent stem cell (iPSC) technology is helping to uncover disease mechanisms and develop treatments for RPE diseases, like bestrophinopathies. Here, we provide a comprehensive review of the pathophysiology of bestrophinopathies and highlight how patient-derived iPSC-RPE are being used to test new genomic therapies in vitro.
| Type: | Article |
|---|---|
| Title: | Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1177/2515841421997191 |
| Publisher version: | http://dx.doi.org/10.1177/2515841421997191 |
| Language: | English |
| Additional information: | Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
| Keywords: | BEST1, bestrophinopathies, CRISPR, gene editing, gene therapy, induced pluripotent stem cells |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10123504 |
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