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Article: Genetics of Magnesium Disorders.

Li, Heng / Sun, Shiren / Chen, Jianghua / Xu, Goushuang / Wang, Hanmin / Qian, Qi

2017 Volume 3, Issue 3, Page(s) 85–97

Abstract: Background: Magnesium (Mg: Summary: This review discusses Mg: Key message: Understanding ... rare and genetic diseases of Mg ...

Abstract	Background: Magnesium (Mg Summary: This review discusses Mg Key message: Understanding rare and genetic diseases of Mg
Language	English
Publishing date	2017-07-05
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2817963-8
ISSN	2296-9357 ; 2296-9381
ISSN (online)	2296-9357
ISSN	2296-9381
DOI	10.1159/000477730
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Article: Genetics of Magnesium Disorders

Li, Heng / Sun, Shiren / Chen, Jianghua / Xu, Goushuang / Wang, Hanmin / Qian, Qi

Kidney Diseases

2017 Volume 3, Issue 3, Page(s) 85–97

Abstract: Background: Magnesium (Mg2+), the second most abundant cation in the cell, is woven ... Unraveling the rare genetic diseases with manifestations of dysmagnesemia has greatly increased ... Understanding rare and genetic diseases of Mg2+ dysregulation has expanded our knowledge and furthers ...

Institution	Kidney Disease Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, and Department of Nephrology, Xijing Hospital, The Fourth Military Medical University, Xian, China Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA
Abstract	Background: Magnesium (Mg2+), the second most abundant cation in the cell, is woven into a multitude of cellular functions. Dysmagnesemia is associated with multiple diseases and, when severe, can be life-threatening. Summary: This review discusses Mg2+ homeostasis and function with specific focus on renal Mg2+ handling. Intrarenal channels and transporters related to Mg2+ absorption are discussed. Unraveling the rare genetic diseases with manifestations of dysmagnesemia has greatly increased our understanding of the complex and intricate regulatory network in the kidney, specifically, functions of tight junction proteins including claudin-14, -16, -19, and -10; apical ion channels including: TRPM6, Kv1.1, and ROMK; small regulatory proteins including AC3 and ANK3; and basolateral proteins including EGF receptor, γ-subunit (FXYD2) of Na-K-ATPase, Kir4.1, CaSR, CNNM2, and SLC41A. Although our understanding of Mg2+ handling of the kidney has expanded considerably in the last two decades, many questions remain. Future studies are needed to elucidate a multitude of unknown aspects of Mg2+ handling in the kidney. Key Message: Understanding rare and genetic diseases of Mg2+ dysregulation has expanded our knowledge and furthers the development of strategies for preventing and managing dysmagnesemia.
Keywords	Claudins ; TRPM6 ; Dysmagnesemia ; Ion channels ; Tight junction proteins
Language	English
Publishing date	2017-07-05
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	The Kidney in Genetic and Rare Diseases: Review
ZDB-ID	2817963-8
ISSN	2296-9357 ; 2296-9381 ; 2296-9357
ISSN (online)	2296-9357
ISSN	2296-9381 ; 2296-9357
DOI	10.1159/000477730
Database	Karger publisher's database

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Article ; Online: Magnesium Homeostasis: Lessons from Human Genetics.

Morrison, Aubrey R

Clinical journal of the American Society of Nephrology : CJASN

2023

Abstract: ... responsible for rare monogenetic disorders presenting with clinical hypomagnesemia. These human disorders due ... revealed by human and mouse genetics and how they are integrated into an understanding of human Mg2+ ...

Abstract	Mg2+, the fourth most abundant cation in the body, serves as a co-factor for about 600 cellular enzymes. One third of ingested Mg2+ is absorbed from the gut through a saturable transcellular process and a concentration-dependent paracellular process. Absorbed Mg2+ is excreted by the kidney and maintains serum Mg2+ within a narrow range of 0.7 to 1.25 mmol/L. The reabsorption of Mg2+ by the nephron is characterized by paracellular transport in the proximal tubule and thick ascending limb. The nature of the transport pathways in the gut epithelia and thick ascending limb has emerged from an understanding of the molecular mechanisms responsible for rare monogenetic disorders presenting with clinical hypomagnesemia. These human disorders due to loss-of function mutations, in concert with mouse models have led to a deeper understanding of Mg2+ transport in the gut and renal tubule. This review focuses on the nature of the transporters and channels revealed by human and mouse genetics and how they are integrated into an understanding of human Mg2+ physiology.
Language	English
Publishing date	2023-02-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2226665-3
ISSN	1555-905X ; 1555-9041
ISSN (online)	1555-905X
ISSN	1555-9041
DOI	10.2215/CJN.0000000000000103
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Article: Genetics of hereditary disorders of magnesium homeostasis.

Schlingmann, Karl P / Konrad, Martin / Seyberth, Hannsjörg W

Pediatric nephrology (Berlin, Germany)

2004 Volume 19, Issue 1, Page(s) 13–25

Abstract: ... During the last decades, various hereditary disorders of magnesium handling have been clinically ... aspects of hereditary disorders of magnesium homeostasis. We will review primary defects of epithelial ... magnesium transport, disorders associated with defects in Ca(2+)/ Mg(2+) sensing, as well as diseases ...

Abstract	Magnesium plays an essential role in many biochemical and physiological processes. Homeostasis of magnesium is tightly regulated and depends on the balance between intestinal absorption and renal excretion. During the last decades, various hereditary disorders of magnesium handling have been clinically characterized and genetic studies in affected individuals have led to the identification of some molecular components of cellular magnesium transport. In addition to these hereditary forms of magnesium deficiency, recent studies have revealed a high prevalence of latent hypomagnesemia in the general population. This finding is of special interest in view of the association between hypomagnesemia and common chronic diseases such as diabetes, coronary heart disease, hypertension, and asthma. However, valuable methods for the diagnosis of body and tissue magnesium deficiency are still lacking. This review focuses on clinical and genetic aspects of hereditary disorders of magnesium homeostasis. We will review primary defects of epithelial magnesium transport, disorders associated with defects in Ca(2+)/ Mg(2+) sensing, as well as diseases characterized by renal salt wasting and hypokalemic alkalosis, with special emphasis on disturbed magnesium homeostasis.
MeSH term(s)	Bartter Syndrome/metabolism ; Calcium/metabolism ; Humans ; Kidney/metabolism ; Magnesium/metabolism ; Magnesium Deficiency/diagnosis ; Magnesium Deficiency/genetics ; Magnesium Deficiency/urine ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/urine ; Prostaglandins E/metabolism
Chemical Substances	Prostaglandins E ; Magnesium (I38ZP9992A) ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2004-01
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-003-1293-z
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Article: Recent advances in molecular genetics of hereditary magnesium-losing disorders.

Konrad, Martin / Weber, Stefanie

Journal of the American Society of Nephrology : JASN

2002 Volume 14, Issue 1, Page(s) 249–260

Abstract: ... genetic and clinical aspects of familial disorders associated with magnesium wasting and focuses ... of a variety of genes and their encoded proteins in human magnesium transport mechanisms. This knowledge ... into molecular components involved in magnesium transport. By mutation analysis and functional protein studies ...

Abstract	Recent advances in molecular genetics in hereditary hypomagnesemia substantiated the role of a variety of genes and their encoded proteins in human magnesium transport mechanisms. This knowledge on underlying genetic defects helps to distinguish different clinical subtypes and gives first insight into molecular components involved in magnesium transport. By mutation analysis and functional protein studies, novel pathophysiologic aspects were elucidated. For some of these disorders, transgenic animal models were generated to study genotype-phenotype relations and disease pathology. This review will discuss genetic and clinical aspects of familial disorders associated with magnesium wasting and focuses on the recent progress that has been made in molecular genetics. Besides isolated renal forms of hereditary hypomagnesemia, the following disorders will also be presented: familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypomagnesemia with secondary hypocalcemia, Ca2+/Mg2+-sensing receptor-associated disorders, and disorders associated with renal salt-wasting and hypokalemic metabolic alkalosis, comprising the Gitelman syndrome and the Bartter-like syndromes.
MeSH term(s)	Bartter Syndrome/complications ; Bartter Syndrome/genetics ; Bartter Syndrome/metabolism ; Calcium/urine ; Genes, Dominant ; Genes, Recessive ; Hearing Loss, Sensorineural/etiology ; Humans ; Magnesium Deficiency/genetics ; Magnesium Deficiency/urine ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/urine ; Molecular Biology ; Syndrome
Chemical Substances	Calcium (SY7Q814VUP)
Language	English
Publishing date	2002-12-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1097/01.asn.0000049161.60740.ce
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Article: The role of genetics in pre-eclampsia and potential pharmacogenomic interventions.

Williams, Paula Juliet / Morgan, Linda

Pharmacogenomics and personalized medicine

2012 Volume 5, Page(s) 37–51

Abstract: ... blockers, calcium channel blockers, and magnesium sulfate are discussed in relation to the treatment and prevention ... leading to the systemic endothelial dysfunction characteristic of the disorder remain to be determined ... immune maladaptation, inadequate placentation, oxidative stress, and thrombosis. Genetic factors ...

Abstract	The pregnancy-specific condition pre-eclampsia not only affects the health of mother and baby during pregnancy but also has long-term consequences, increasing the chances of cardiovascular disease in later life. It is accepted that pre-eclampsia has a placental origin, but the pathogenic mechanisms leading to the systemic endothelial dysfunction characteristic of the disorder remain to be determined. In this review we discuss some key factors regarded as important in the development of pre-eclampsia, including immune maladaptation, inadequate placentation, oxidative stress, and thrombosis. Genetic factors influence all of these proposed pathophysiological mechanisms. The inherited nature of pre-eclampsia has been known for many years, and extensive genetic studies have been undertaken in this area. Genetic research offers an attractive strategy for studying the pathogenesis of pre-eclampsia as it avoids the ethical and practical difficulties of conducting basic science research during the preclinical phase of pre-eclampsia when the underlying pathological changes occur. Although pharmacogenomic studies have not yet been conducted in pre-eclampsia, a number of studies investigating treatment for essential hypertension are of relevance to therapies used in pre-eclampsia. The pharmacogenomics of antiplatelet agents, alpha and beta blockers, calcium channel blockers, and magnesium sulfate are discussed in relation to the treatment and prevention of pre-eclampsia. Pharmacogenomics offers the prospect of individualized patient treatment, ensuring swift introduction of optimal treatment whilst minimizing the use of inappropriate or ineffective drugs, thereby reducing the risk of harmful effects to both mother and baby.
Language	English
Publishing date	2012-01-20
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2508173-1
ISSN	1178-7066
ISSN	1178-7066
DOI	10.2147/PGPM.S23141
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Article: Molecular genetics of human hypertension.

Luft, F C

Current opinion in nephrology and hypertension

2000 Volume 9, Issue 3, Page(s) 259–266

Abstract: ... Molecular genetics has made significant inroads in explaining basic mechanisms of magnesium homeostasis. Linkage ... Several new monogenic hypertensive disorders, as well as a monogenic form of hypotension, were elucidated ... The year 1999 saw considerable activity in the area of hypertension-related molecular genetics ...

Abstract	The year 1999 saw considerable activity in the area of hypertension-related molecular genetics. Several new monogenic hypertensive disorders, as well as a monogenic form of hypotension, were elucidated. Molecular genetics has made significant inroads in explaining basic mechanisms of magnesium homeostasis. Linkage strategies have been applied in family studies, sib-pair analyses, and twin studies. More stringent criteria for association studies have been formulated. The 11 beta-hydroxysteroid dehydrogenase gene, the prostacyclin synthase gene, genes coding for variants in G proteins, and adrenergic receptor genes have received particular attention. On the horizon are better phenotyped patient and subject collectives, expanded genotyping with the availability of a 300,000 genome-wide single-nucleotide polymorphism map, multigenic studies in the form of metabolic control analyses, and new bioinformatic strategies including neural networks.
MeSH term(s)	11-beta-Hydroxysteroid Dehydrogenases ; Cytochrome P-450 Enzyme System/genetics ; GTP-Binding Proteins/genetics ; Gene Expression Regulation ; Genetic Linkage ; Humans ; Hydroxysteroid Dehydrogenases/genetics ; Hypertension/genetics ; Intramolecular Oxidoreductases/genetics ; Receptors, Adrenergic/genetics
Chemical Substances	Receptors, Adrenergic ; Cytochrome P-450 Enzyme System (9035-51-2) ; Hydroxysteroid Dehydrogenases (EC 1.1.-) ; 11-beta-Hydroxysteroid Dehydrogenases (EC 1.1.1.146) ; GTP-Binding Proteins (EC 3.6.1.-) ; Intramolecular Oxidoreductases (EC 5.3.-) ; prostacyclin synthetase (EC 5.3.99.4)
Language	English
Publishing date	2000-05
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1151092-4
ISSN	1535-3842 ; 1062-4821 ; 1062-4813
ISSN (online)	1535-3842
ISSN	1062-4821 ; 1062-4813
DOI	10.1097/00041552-200005000-00009
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Article ; Online: The role of genetics in pre-eclampsia and potential pharmacogenomic interventions

Williams PJ / Morgan L

Pharmacogenomics and Personalized Medicine, Vol 2012, Iss default, Pp 37-

2012 Volume 51

Abstract: ... blockers, calcium channel blockers, and magnesium sulfate are discussed in relation to the treatment and prevention ... placenta, trophoblast, genetics ... mechanisms leading to the systemic endothelial dysfunction characteristic of the disorder remain to be ...

Abstract	Paula Juliet Williams, Linda MorganHuman Genetics Research Group, University of Nottingham, Nottingham, UKAbstract: The pregnancy-specific condition pre-eclampsia not only affects the health of mother and baby during pregnancy but also has long-term consequences, increasing the chances of cardiovascular disease in later life. It is accepted that pre-eclampsia has a placental origin, but the pathogenic mechanisms leading to the systemic endothelial dysfunction characteristic of the disorder remain to be determined. In this review we discuss some key factors regarded as important in the development of pre-eclampsia, including immune maladaptation, inadequate placentation, oxidative stress, and thrombosis. Genetic factors influence all of these proposed pathophysiological mechanisms. The inherited nature of pre-eclampsia has been known for many years, and extensive genetic studies have been undertaken in this area. Genetic research offers an attractive strategy for studying the pathogenesis of pre-eclampsia as it avoids the ethical and practical difficulties of conducting basic science research during the preclinical phase of pre-eclampsia when the underlying pathological changes occur. Although pharmacogenomic studies have not yet been conducted in pre-eclampsia, a number of studies investigating treatment for essential hypertension are of relevance to therapies used in pre-eclampsia. The pharmacogenomics of antiplatelet agents, alpha and beta blockers, calcium channel blockers, and magnesium sulfate are discussed in relation to the treatment and prevention of pre-eclampsia. Pharmacogenomics offers the prospect of individualized patient treatment, ensuring swift introduction of optimal treatment whilst minimizing the use of inappropriate or ineffective drugs, thereby reducing the risk of harmful effects to both mother and baby.Keywords: pre-eclampsia, pharmacogenetics, placenta, trophoblast, genetics
Keywords	Pharmacy and materia medica ; RS1-441 ; Medicine ; R ; DOAJ:Pharmacy and materia medica ; DOAJ:Medicine (General) ; DOAJ:Health Sciences ; Therapeutics. Pharmacology ; RM1-950
Subject code	330
Language	English
Publishing date	2012-01-01T00:00:00Z
Publisher	Dove Medical Press
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Book ; Online: Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019

Butler, Merlin G.

2022

Keywords	Research & information: general ; Biology, life sciences ; Genetics (non-medical) ; autism spectrum disorders (ASD) ; cancer ; overlapping genes and gene profiling ; super-pathways ; phenotypes and diseases ; molecular functions and processes ; 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome ; imprinting ; parent-of-origin effects ; phenotype-genotype correlation ; autism ; developmental delays ; motor delays ; microbiome ; gut ; ProSAP2 ; Phelan McDermid Syndrome ; gut-brain interaction ; leaky gut ; IL-6 ; SHANK ; collapsin response mediator protein 4 ; autism spectrum disorder ; neurodevelopmental disorder ; whole-exome sequencing ; animal model ; sex different phenotypes ; 15q11.2 BP1-BP2 microdeletion (Burnside-Butler syndrome) ; NIPA1 ; NIPA2 ; CYFIP1 ; TUBGCP5 genes ; Prader-Willi and Angelman syndromes ; magnesium transporters and supplementation ; potential treatment options ; intellectual disability ; AMPA receptors ; NMDA receptors ; guanine nucleotide exchange factor ; synaptic plasticity ; Autism spectrum disorder ; ASD ; Obesity ; Overweight ; Body mass index ; BMI ; autism candidate genes ; synaptotagmin-like protein 4 (SYTL4) ; transmembrane protein 187 (TMEM187) ; SYTL4-protein structure ; STRING-protein-protein interaction ; expression profile ; microRNA- interactions ; autism spectrum disorders ; biological networks ; genomics ; multi-omics ; network diffusion ; data integration ; genetics ; quantitative traits ; stratification by trait severity ; heterogeneity reduction ; case-control association analysis ; fragile X syndrome ; RNA toxicity ; DNA methylation ; mosaicism ; pediatrics ; MS-QMA ; AmplideX ; cytokine ; monocyte ; β-glucan ; T cell cytokine ; trained immunity ; maternal immune activation ; epigenetics ; mice ; postnatal VPA injection ; SAM ; gene expression ; nanostring
Language	0\|e
Size	1 electronic resource (256 pages)
Publisher	MDPI - Multidisciplinary Digital Publishing Institute
Publishing place	Basel
Document type	Book ; Online
Note	English ; Open Access
HBZ-ID	HT021608808
ISBN	9783036536101 ; 3036536108
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article: Review of childhood genetic nephrolithiasis and nephrocalcinosis.

Gefen, Ashley M / Zaritsky, Joshua J

Frontiers in genetics

2024 Volume 15, Page(s) 1381174

Abstract: ... those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis ... that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there ... xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS ...

Abstract	Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC. Most genetic diseases associated with NL and NC are secondary to hypercalciuria, including those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis (RTA), proximal tubulopathies, mixed or variable tubulopathies, Bartter syndrome, hyperaldosteronism and pseudohyperaldosteronism, and hyperparathyroidism and hypoparathyroidism. The remaining minority of genetic diseases associated with NL and NC are secondary to hyperoxaluria, cystinuria, hyperuricosuria, xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS) in adults have identified multiple polygenic traits associated with NL and NC, often involving genes that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there is a relative paucity of studies in children with NL and NC. This review aims to focus on the genetic component of NL and NC in children.
Language	English
Publishing date	2024-03-28
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2024.1381174
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