Claudins and mineral metabolism

Hou, Jianghui

doi:10.1097/mnh.0000000000000239

Cited by 18 publications

(21 citation statements)

References 47 publications

(59 reference statements)

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“…The CLDN16 gene has also been associated with renal hypomagnesemia. It has been proposed that claudin-16 (encoded by CLDN16 gene) is involved in controlling magnesium and calcium permeability of the paracellular pathway in the cTAL [6,21]. Several known intronic mutations in HNF1B and CLDN16 genes were found in our patient.…”

Section: Discussionmentioning

confidence: 59%

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Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia

et al. 2018

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Hypomagnesemia with secondary hypocalcemia is a rare autosomal-recessive disorder characterized by intense hypomagnesemia associated with hypocalcemia (HSH). Mutations in the TRPM6 gene, encoding the epithelial Mg channel TRPM6, have been proven to be the molecular cause of this disease. This study identified causal mutations in a 2-month-old male patient of hypomagnesemia from a consanguineous marriage. Biochemical analyses indicated the diagnosis of HSH due to primary gastrointestinal loss of magnesium. Whole exome sequencing of the trio (i.e. proband and both parents) was carried out with mean coverage of > 150×. ANNOVAR was used to annotate functional consequences of genetic variation from exome sequencing data. After variant filtering and annotation, a number of single nucleotide variants (SNVs) and 2 bp deletion at exon26:c.4402_4403delCT in TRPM6 gene were identified. This deletion which resulted in a novel frameshift mutation in exon 26 of this gene was confirmed by Sanger sequencing. With these investigations in hand, the patient was managed with magnesium sulphate. The patient remained asymptomatic and was developmentally and neurologically normal till his last follow up.

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Section: Discussionmentioning

confidence: 59%

“…Schlingmann et al [16] reported 23 different mutations in TRPM6 gene among a cohort of 21 families with 28 affected individuals. Nine of these were frame shift mutations in exons 6,11,16,17,21,22,23 and 25-27. It is interesting that two patients of Pakistani ancestry with consanguinity in this cohort had homozygous deletion of exons 25-27.…”

Section: Discussionmentioning

confidence: 99%

Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia

et al. 2018

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“…The TAL is responsible for the bulk of renal Mg 2+ reabsorption 9 . In the TAL, paracellular Mg 2+ and Ca 2+ reabsorption is regulated by the Cldn14/16/19 complex 44,45 . Cldn14 mRNA expression is strongly regulated by dietary Ca 2+ intake 46,47 .…”

Section: Discussionmentioning

confidence: 99%

Diabetes-induced hypomagnesemia is not modulated by metformin treatment in mice

Kurstjens

Bouras

Bos

et al. 2019

Sci Rep

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Approximately 30% of patients with type 2 diabetes mellitus (T2D) have hypomagnesemia (blood magnesium (Mg2+) concentration <0.7 mmol/L). In T2D patients, treatment with metformin is associated with reduced blood Mg2+ levels. To investigate how T2D and metformin affect Mg2+ homeostasis db/m and db/db mice were treated with metformin or placebo. Mice were housed in metabolic cages to measure food and water intake, and to collect urine and feces. Serum and urinary Mg2+ concentrations were determined and mRNA expression of magnesiotropic genes was determined in kidney and distal colon using RT-qPCR. Db/db mice had significantly lower serum Mg2+ levels than db/m mice. Mild hypermagnesuria was observed in the db/db mice at two weeks, but not at four weeks. Metformin-treatment had no effect on the serum Mg2+ concentration and on the urinary Mg2+ excretion. Both in kidney and distal colon of db/db mice, there was a compensatory upregulation in the mRNA expression of magnesiotropic genes, such as transient receptor potential melastatin 6 (Trpm6), whereas metformin treatment did not affect gene expression levels. In conclusion, we show that T2D causes hypomagnesemia and that metformin treatment has no effect on Mg2+ homeostasis in mice.

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“…The selectivity of the paracellular pathway is determined by claudins which form a cation -selective tight junction through which the Mg paracellular transport is done 23,24 . Three claudin proteins, claudin -14, claudin -16 and claudin -19, make the cation -selective paracellular pathway for Ca and Mg. Claudin -16 and claudin -19 form the pores and claudin -14 inhibits the cation selectivity of that pore 25,26 .…”

Section: Physiology Of Magnesiummentioning

confidence: 99%

Magnesium supplementation to prevent recurrence of renal stones

Laranjinha

Ocidental

Matias

et al. 2020

pjnh

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The filtered Mg is reabsorbed by the renal tubules: 10-25% in the proximal tubule, 60-70% in the thick ascending limb (TAL) and 5% in the distal tubule. Transport of Mg in TAL is primarily passive (moving from the lumen to the interstitium) via the paracellular channels, due to a transepithelial gradient generated by the apical NaK2Cl cotransporter (Figure 1). ABSTRACT Stone formers have lower urinary magnesium than healthy people. Higher urinary magnesium levels are associated with lower incidence of kidney stones, and hypomagnesuria has been described as a lithogenic risk factor. Magnesium can have direct and indirect inhibitory effects on lithogenesis: decreasing the absorption of oxalates in the intestine; forming magnesium oxalate complexes which reduces the saturation of calcium oxalate; increasing the urinary citrate and inhibiting the conversion of the calcium oxalate in its monohydrated form. Oral supplementation with magnesium is an effective way to correct hypomagnesuria. However, oral magnesium supplementation in recurrent stone formers with hypomagnesuria is still a subject of ongoing debate, and physicians treating these patients underestimate its potential preventive effects. Oral magnesium supplementation can be used as an adjuvant therapy to the standard prophylactic therapy, mainly in association with an alkali salt. It is well tolerated and has few adverse effects.

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Claudins and mineral metabolism

Cited by 18 publications

References 47 publications

Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia

Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia

Diabetes-induced hypomagnesemia is not modulated by metformin treatment in mice

Magnesium supplementation to prevent recurrence of renal stones

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