Mutations in KLHL3 and CUL3 are linked to electrolyte abnormalities and hypertension

With the use of exome sequencing, investigators have identified a link between mutations in kelch-like 3 (KLHL3) and cullin 3 (CUL3) and hypertension and electrolyte abnormalities in patients with pseudohypoaldosteronism type II. These proteins are thought to have a role in the regulation of salt and electrolyte homeostasis in the distal nephron. The researchers suggest that mutations in KLHL3 and CUL3 might abrogate ubiquitination of KLHL3 targets, thus disrupting normal electrolyte handling in response to a physiological challenge.