PMID: 12763862May 24, 2003Paper

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit

Annals of the New York Academy of Sciences
I C MeijNine V Knoers

Abstract

Hereditary primary hypomagnesemia comprises a clinically and genetically heterogeneous group of disorders in which hypomagnesemia is due to either renal or intestinal Mg(2+) wasting. These disorders share the general symptoms of hypomagnesemia, tetany and epileptiformic convulsions, and often include secondary or associated disturbances in calcium excretion. In a large Dutch family with autosomal dominant renal hypomagnesemia, associated with hypocalciuria, we mapped the disease locus to a 5.6-cM region on chromosome 11q23. After candidate screening, we identified a heterozygous mutation in the FXYD2 gene, encoding the Na(+),K(+)-ATPase gamma-subunit, cosegregating with the patients of this family, which was not found in 132 control chromosomes. The mutation leads to a G41R substitution, introducing a charged amino acid residue in the predicted transmembrane region of the gamma-subunit protein. Expression studies in insect Sf9 and COS-1 cells showed that the mutant gamma-subunit protein was incorrectly routed and accumulated in perinuclear structures. In addition to disturbed routing of the G41R mutant, Western blot analysis of Xenopus oocytes expressing wild-type or mutant gamma-subunit showed mutant gamma-subunit lacking a po...Continue Reading

References

May 1, 1987·Kidney International·W B GevenB G ter Haar
Apr 1, 1994·Physiological Reviews·C de Rouffignac, G Quamme
Nov 14, 1997·Kidney International·G A Quamme
Jan 24, 1998·The Journal of Biological Chemistry·A G TherienR Blostein
Jan 23, 1999·American Journal of Human Genetics·I C MeijN V Knoers
Apr 23, 1999·The Journal of Biological Chemistry·A G TherienR Blostein
Jul 15, 1999·Journal of the American Society of Nephrology : JASN·Z S Agus
Nov 24, 1999·The Journal of Biological Chemistry·E ArystarkhovaK J Sweadner
Aug 3, 2000·Frontiers in Bioscience : a Journal and Virtual Library·G A Quamme, C de Rouffignac
Jan 12, 2001·Physiological Reviews·L J DaiG A Quamme
Aug 15, 2001·American Journal of Physiology. Renal Physiology·R K Wetzel, K J Sweadner
Jan 5, 2002·The Journal of Biological Chemistry·Elena ArystarkhovaKathleen J Sweadner
Feb 8, 2002·American Journal of Physiology. Renal Physiology·Elena ArystarkhovaKathleen J Sweadner
Apr 4, 2002·The Journal of Biological Chemistry·Helen X PuRhoda Blostein
Sep 10, 2002·American Journal of Physiology. Renal Physiology·Haim GartySteven J D Karlish

❮ Previous
Next ❯

Citations

Oct 25, 2008·Pflügers Archiv : European journal of physiology·Qi XiRené J M Bindels
Jan 12, 2011·Pflügers Archiv : European journal of physiology·Sascha BandulikMarkus Reichold
Sep 27, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Nine V A M Knoers
Jan 30, 2008·Nature Clinical Practice. Nephrology·Amir Said Alizadeh Naderi, Robert F Reilly
Aug 3, 2007·The Journal of Clinical Investigation·Wouter M Tiel GroenestegeRené J Bindels
Mar 25, 2009·BMC Genomics·Kirsti Laurila, Mauno Vihinen
May 18, 2007·Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine·Itsuro Endo, Toshio Matsumoto
Apr 4, 2006·Advances in Chronic Kidney Disease·Stéphanie ThébaultRené J M Bindels
Dec 4, 2012·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Henrik DimkeRené J M Bindels
Aug 16, 2011·Journal of Intensive Care Medicine·Andrea Kelly, Michael A Levine
May 14, 2008·Expert Opinion on Pharmacotherapy·Bruno VincenziGiuseppe Tonini
Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
Jun 7, 2014·Current Opinion in Nephrology and Hypertension·Jenny van der WijstJoost G J Hoenderop
May 25, 2016·Current Opinion in Nephrology and Hypertension·Zalman S Agus
Mar 10, 2005·The Journal of Biological Chemistry·D Holstead JonesGerald M Kidder
Mar 11, 2021·The Journal of General Physiology·John Q YapSeth L Robia
Jul 8, 2021·American Journal of Physiology. Cell Physiology·Elisa D BiondoPablo Artigas
Oct 9, 2009·Kidney International·Bob GlaudemansRené J M Bindels

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.

Related Papers

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
I C MeijNine V Knoers
Annals of the New York Academy of Sciences
Rhoda BlosteinAthina Zouzoulas
Kidney International
D N CruzYale Gitelman's and Bartter's Syndrome Collaborative Study Group
© 2022 Meta ULC. All rights reserved