Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl /H exchanger. The CLC5 mutants that have been functionally analysed constitute three major classes based on protein expression, cellular localization and channel function. We tested two small molecules, 4-phenylbutyrate (4PBA) and its analogue 2-naphthoxyacetic acid (2-NOAA), for their effect on mutant CLC5 function and expression by whole-cell patch-clamp and Western blot, respectively. The expression and function of non-Class I CLC5 mutants that have reduced function could be restored by either treatment. Cell viability was reduced in cells treated with 2-NOAA. 4PBA is a FDA-approved drug for the treatment of urea cycle disorders and offers a potential therapy for Dent disease.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812281 | PMC |
| http://dx.doi.org/10.1111/jcmm.16091 | DOI Listing |
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