Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.


Journal

Molecules (Basel, Switzerland)
ISSN: 1420-3049
Titre abrégé: Molecules
Pays: Switzerland
ID NLM: 100964009

Informations de publication

Date de publication:
08 Apr 2023
Historique:
received: 27 02 2023
revised: 24 03 2023
accepted: 31 03 2023
medline: 1 5 2023
pubmed: 28 4 2023
entrez: 28 4 2023
Statut: epublish

Résumé

Bestrophin 1 (Best1) is a chloride channel that localises to the plasma membrane of retinal pigment epithelium (RPE) cells. Mutations in the BEST1 gene are associated with a group of untreatable inherited retinal dystrophies (IRDs) called bestrophinopathies, caused by protein instability and loss-of-function of the Best1 protein. 4PBA and 2-NOAA have been shown to rescue the function, expression, and localisation of Best1 mutants; however, it is of interest to find more potent analogues as the concentration of the drugs required is too high (2.5 mM) to be given therapeutically. A virtual docking model of the COPII Sec24a site, where 4PBA has been shown to bind, was generated and a library of 1416 FDA-approved compounds was screened at the site. The top binding compounds were tested in vitro in whole-cell patch-clamp experiments of HEK293T cells expressing mutant Best1. The application of 25 μM tadalafil resulted in full rescue of Cl

Identifiants

pubmed: 37110551
pii: molecules28083317
doi: 10.3390/molecules28083317
pmc: PMC10142963
pii:
doi:

Substances chimiques

Bestrophins 0
Chloride Channels 0
Tadalafil 742SXX0ICT
BEST1 protein, human 0
SEC24A protein, human 0
Vesicular Transport Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Sight Research UK
ID : RES 010

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Auteurs

Kathleen Elverson (K)

Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK.

Jim Warwicker (J)

Division of Molecular and Cellular Function, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, The University of Manchester, Manchester M1 7DN, UK.

Sally Freeman (S)

Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK.

Forbes Manson (F)

Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK.

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Classifications MeSH