Literature DB >> 15824853

Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice.

Laurence Nicolet-Barousse1, Anne Blanchard, Christian Roux, Laurence Pietri, May Bloch-Faure, Sami Kolta, Christine Chappard, Valérie Geoffroy, Caroline Morieux, Xavier Jeunemaitre, Gary E Shull, Pierre Meneton, Michel Paillard, Pascal Houillier, Marie-Christine De Vernejoul.   

Abstract

UNLABELLED: Chronic thiazide treatment is associated with high BMD. We report that patients and mice with null mutations in the thiazide-sensitive NaCl cotransporter (NCC) have higher renal tubular Ca reabsorption, higher BMD, and lower bone remodeling than controls, as well as abnormalities in Ca metabolism, mainly caused by Mg depletion.
INTRODUCTION: Chronic thiazide treatment decreases urinary Ca excretion (UVCa) and increases BMD. To understand the underlying mechanisms, Ca and bone metabolism were studied in two models of genetic inactivation of the thiazide-sensitive NaCl cotransporter (NCC): patients with Gitelman syndrome (GS) and Ncc knockout (Ncc(-/-)) mice.
MATERIALS AND METHODS: Ca metabolism was analyzed in GS patients and Ncc(-/-) mice under conditions of low dietary Ca. BMD was measured by DXA in patients and mice, and bone histomorphometry was analyzed in mice.
RESULTS: GS patients had low plasma Mg. They exhibited reduced UVCa, but similar serum Ca and GFR as control subjects, suggesting increased renal Ca reabsorption. Blood PTH was lower despite lower serum ionized Ca, and Mg repletion almost corrected both relative hypoparathyroidism and low UVCa. BMD was significantly increased in GS patients at both lumbar (+7%) and femoral (+16%) sites, and osteocalcin was reduced. In Ncc(-/-) mice, serum Ca and GFR were unchanged, but UVCa was reduced and PTH was elevated; Mg repletion largely corrected both abnormalities. Trabecular and cortical BMD were higher than in Ncc(+/+) mice (+4% and +5%, respectively), and despite elevated PTH, were associated with higher cortical thickness and lower endosteal osteoclastic surface.
CONCLUSIONS: Higher BMD is observed in GS patients and Ncc(-/-) mice. Relative hypoparathyroidism (human) and bone resistance to PTH (mice), mainly caused by Mg depletion, can explain the low bone remodeling and normal/low serum Ca despite increased renal Ca reabsorption.

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Year:  2004        PMID: 15824853     DOI: 10.1359/JBMR.041238

Source DB:  PubMed          Journal:  J Bone Miner Res        ISSN: 0884-0431            Impact factor:   6.741


  18 in total

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2.  Parathyroid hormone (PTH) regulates the sodium chloride cotransporter via Ras guanyl releasing protein 1 (Ras-GRP1) and extracellular signal-regulated kinase (ERK)1/2 mitogen-activated protein kinase (MAPK) pathway.

Authors:  Benjamin Ko; Leslie L Cooke; Robert S Hoover
Journal:  Transl Res       Date:  2011-08-18       Impact factor: 7.012

3.  A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes.

Authors:  Maria A Christou; Georgios Ntritsos; Georgios Markozannes; Fotis Koskeridis; Spyros N Nikas; David Karasik; Douglas P Kiel; Evangelos Evangelou; Evangelia E Ntzani
Journal:  Bone Res       Date:  2020-07-01       Impact factor: 13.567

Review 4.  Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.

Authors:  T D Filippatos; C V Rizos; E Tzavella; M S Elisaf
Journal:  Int Urol Nephrol       Date:  2017-07-25       Impact factor: 2.370

5.  Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

Authors:  Tamra E Meyer; Germaine C Verwoert; Shih-Jen Hwang; Nicole L Glazer; Albert V Smith; Frank J A van Rooij; Georg B Ehret; Eric Boerwinkle; Janine F Felix; Tennille S Leak; Tamara B Harris; Qiong Yang; Abbas Dehghan; Thor Aspelund; Ronit Katz; Georg Homuth; Thomas Kocher; Rainer Rettig; Janina S Ried; Christian Gieger; Hanna Prucha; Arne Pfeufer; Thomas Meitinger; Josef Coresh; Albert Hofman; Mark J Sarnak; Yii-Der Ida Chen; André G Uitterlinden; Aravinda Chakravarti; Bruce M Psaty; Cornelia M van Duijn; W H Linda Kao; Jacqueline C M Witteman; Vilmundur Gudnason; David S Siscovick; Caroline S Fox; Anna Köttgen
Journal:  PLoS Genet       Date:  2010-08-05       Impact factor: 5.917

6.  Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.

Authors:  Hendrica Belge; Philippe Gailly; Beat Schwaller; Johannes Loffing; Huguette Debaix; Eva Riveira-Munoz; Renaud Beauwens; Jean-Pierre Devogelaer; Joost G Hoenderop; René J Bindels; Olivier Devuyst
Journal:  Proc Natl Acad Sci U S A       Date:  2007-09-05       Impact factor: 11.205

Review 7.  Sexually dimorphic expression of KCC2 and GABA function.

Authors:  Aristea S Galanopoulou
Journal:  Epilepsy Res       Date:  2008-06-03       Impact factor: 3.045

8.  Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.

Authors:  Xuesi Wan; James Perry; Haichen Zhang; Feng Jin; Kathleen A Ryan; Cristopher Van Hout; Jeffrey Reid; John Overton; Aris Baras; Zhe Han; Elizabeth Streeten; Yanbing Li; Braxton D Mitchell; Alan R Shuldiner; Mao Fu
Journal:  J Am Soc Nephrol       Date:  2021-02-04       Impact factor: 10.121

9.  Thiazide diuretics directly induce osteoblast differentiation and mineralized nodule formation by interacting with a sodium chloride co-transporter in bone.

Authors:  Melita M Dvorak; Cyrille De Joussineau; D Howard Carter; Trairak Pisitkun; Mark A Knepper; Gerardo Gamba; Paul J Kemp; Daniela Riccardi
Journal:  J Am Soc Nephrol       Date:  2007-07-26       Impact factor: 10.121

10.  Effects of three years of low-dose thiazides on mineral metabolism in healthy elderly persons.

Authors:  S M Ott; A Z LaCroix; D Scholes; L E Ichikawa; K Wu
Journal:  Osteoporos Int       Date:  2008-04-19       Impact factor: 5.071

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