MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.

In this study, we show that MFSD12 depletion with either CRISPR/Cas9-mediated gene editing or a translation-blocking morpholino significantly reduced cystine levels in cystinosis ciPTECs and ctns −/− zebrafish embryos, respectively. However, we observed no improvement in the proximal tubular reabsorption of dextran in the ctns −/− zebrafish embryos injected with mfsd12a translation-blocking morpholino. Furthermore, a negative effect of the mfsd12a morpholino on the zebrafish development warrants further investigation.