Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function.

Article Details

Citation

Copy to clipboard

Welling PA

Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function.

Curr Opin Nephrol Hypertens. 2014 Jan;23(1):1-8. doi: 10.1097/01.mnh.0000437204.84826.99.

PubMed ID

24253496 [ View in PubMed

]

Abstract

PURPOSE OF REVIEW: Recent efforts to explore the genetic underpinnings of hypertension revealed rare mutations in kidney salt transport genes contribute to blood pressure (BP) variation and hypertension susceptibility in the general population. The current review focuses on these latest findings, highlighting a discussion about the rare mutations and how they affect the transport function. RECENT FINDINGS: Rare mutations that confer a low BP trait and resistance to hypertension have recently been extensively studied. Physiological and biochemical analyses of the affected renal salt transport molecules [NKCC2 (SLC12A1), ROMK (KCNJ1), and NCC (SLC12A3)] revealed that most of the mutations do, in fact, cause a loss of transport function. The mutations disrupt the transport by many different mechanisms, including altering biosynthetic processing, trafficking, ion transport, and regulation. SUMMARY: New insights into the genetic basis of hypertension have recently emerged, supporting a major role of rare, rather than common, gene variants. Many different rare mutations have been found to affect the functions of different salt transporter genes by different mechanisms, yet all confer the same BP phenotype. These studies reinforce the critical roles of the kidney, and renal salt transport in BP regulation and hypertension.

DrugBank Data that Cites this Article

Drug Enzymes

Drug	Enzyme	Kind	Organism	Pharmacological Action	Actions
Potassium gluconate	Sodium/potassium-transporting ATPase subunit gamma	Protein	Humans	No	Substrate Inducer	Details

Drug Transporters

Drug	Transporter	Kind	Organism	Pharmacological Action	Actions
Potassium gluconate	Sodium/potassium-transporting ATPase subunit alpha-1	Protein	Humans	No	Substrate	Details
Potassium gluconate	Solute carrier family 12 member 1	Protein	Humans	No	Substrate	Details