KCNJ16-depleted kidney organoids recapitulate tubulopathy and lipid recovery upon statins treatment.

ABSTRACT:

Background

The KCNJ16 gene has been associated with a novel kidney tubulopathy phenotype, viz. disturbed acid-base homeostasis, hypokalemia and altered renal salt transport. KCNJ16 encodes for Kir5.1, which together with Kir4.1 constitutes a potassium channel located at kidney tubular cell basolateral membranes. Preclinical studies provided mechanistic links between Kir5.1 and tubulopathy, however, the disease pathology remains poorly understood. Here, we aimed at generating and characterizing a novel advanced in vitro human kidney model that recapitulates the disease phenotype to investigate further the pathophysiological mechanisms underlying the tubulopathy and potential therapeutic interventions.

Methods

We used CRISPR/Cas9 to generate KCNJ16 mutant (KCNJ16^+/-

SUBMITTER: Sendino Garvi E 

PROVIDER: S-EPMC11346019 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature