ArticleThe Journal of clinical investigation2009
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Article in The Journal of clinical investigation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed, 156 citations in OpenAlex.
- Renal TRPM6 but not Kv1.1 is required for magnesium homeostasis in mice.American journal of physiology. Renal physiology · 2026Article
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Paradoxical Inadequate Parathyroid Hormone Secretion Secondary to Severe Hypomagnesemia: A Review of the Literature.Kidney medicine · 2025Review
- Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.Cerebellum (London, England) · 2024Review
- Magnesium (MgCurrent pharmaceutical design · 2024Review
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- Physiology of a Forgotten Electrolyte-Magnesium Disorders.Advances in kidney disease and health · 2023Review
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Control of sodium and potassium homeostasis by renal distal convoluted tubules.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2023Article
- Clinical and genetic approach to renal hypomagnesemia.Biomedical journal · 2022Review
- Fibroblast growth factor 23 is independently associated with renal magnesium handling in patients with chronic kidney disease.Frontiers in endocrinology · 2022Article
- Renal calcium and magnesium handling in Gitelman syndrome.American journal of translational research · 2022Review
- NovelFrontiers in genetics · 2022Article
- Spatial Dissection of Invasive Front from Tumor Mass Enables Discovery of Novel microRNA Drivers of Glioblastoma Invasion.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- A forward genetic screen identifies Dolk as a regulator of startle magnitude through the potassium channel subunit Kv1.1.PLoS genetics · 2021Article
- The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).Human mutation · 2021Article
- Does fludrocortisone treatment cause hypomagnesemia in children with primary adrenal insufficiency?Turkish journal of medical sciences · 2021Article
- Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney.Acta physiologica (Oxford, England) · 2021Review
- NaCl cotransporter activity and MgAmerican journal of physiology. Renal physiology · 2020Review
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9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hypomagnesemia is a heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg2+) wasting, resulting in tetany, cardiac arrhythmias, and seizures. The kidney plays an essential role in maintaining blood Mg2+ levels, with a prominent function for the Mg2+-transporting channel transient receptor potential cation channel, subfamily M, member 6 (TRPM6) in the distal convoluted tubule (DCT). In the DCT, Mg2+ reabsorption is an active transport process primarily driven by the negative potential across the luminal membrane. Here, we studied a family with isolated autosomal dominant hypomagnesemia and used a positional cloning approach to identify an N255D mutation in KCNA1, a gene encoding the voltage-gated potassium (K+) channel Kv1.1. Kv1.1 was found to be expressed in the kidney, where it colocalized with TRPM6 along the luminal membrane of the DCT. Upon overexpression in a human kidney cell line, patch clamp analysis revealed that the KCNA1 N255D mutation resulted in a nonfunctional channel, with a dominant negative effect on wild-type Kv1.1 channel function. These data suggest that Kv1.1 is a renal K+ channel that establishes a favorable luminal membrane potential in DCT cells to control TRPM6-mediated Mg2+ reabsorption.
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