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Article ; Online: Liver and spleen predominantly mediate calciprotein particle clearance in a rat model of chronic kidney disease.

Zeper, Lara W / Bos, Caro / Leermakers, Pieter A / Franssen, Gerben M / Raavé, René / Hoenderop, Joost G J / de Baaij, Jeroen H F

American journal of physiology. Renal physiology

2024 Volume 326, Issue 4, Page(s) F622–F634

Abstract: Calciprotein particles (CPPs) provide an efficient mineral buffering system to prevent the complexation of phosphate and calcium in the circulation. However, in chronic kidney disease (CKD), the phosphate load exceeds the mineral buffering capacity, ... ...

Abstract	Calciprotein particles (CPPs) provide an efficient mineral buffering system to prevent the complexation of phosphate and calcium in the circulation. However, in chronic kidney disease (CKD), the phosphate load exceeds the mineral buffering capacity, resulting in the formation of crystalline CPP2 particles. CPP2 have been associated with cardiovascular events and mortality. Moreover, CPP2 have been demonstrated to induce calcification in vitro. In this study, we examined the fate of CPP2 in a rat model of CKD. Calcification was induced in Sprague-Dawley rats by 5/6 nephrectomy (5/6-Nx) combined with a high-phosphate diet. Control rats received sham surgery and high-phosphate diet. Twelve weeks after surgery, kidney failure was significantly induced in 5/6-Nx rats as determined by enhanced creatinine and urea plasma levels and abnormal kidney histological architecture. Subsequently, radioactive and fluorescent (FITC)-labeled CPP2 ([
MeSH term(s)	Rats ; Animals ; Spleen/metabolism ; Calcium/metabolism ; Fluorescein-5-isothiocyanate ; Tissue Distribution ; Rats, Sprague-Dawley ; Vascular Calcification/diagnostic imaging ; Vascular Calcification/etiology ; Minerals ; Liver/metabolism ; Phosphates ; Renal Insufficiency, Chronic/pathology
Chemical Substances	Calcium (SY7Q814VUP) ; Fluorescein-5-isothiocyanate (I223NX31W9) ; Minerals ; Phosphates
Language	English
Publishing date	2024-02-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	603837-2
ISSN	1522-1466 ; 0363-6127
ISSN (online)	1522-1466
ISSN	0363-6127
DOI	10.1152/ajprenal.00239.2023
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Article ; Online: Inhibition of pannexin-1 does not restore electrolyte balance in precystic Pkd1 knockout mice.

van Megen, Wouter H / van Houtert, Teun J / Bos, Caro / Peters, Dorien J M / de Baaij, Jeroen H F / Hoenderop, Joost G J

Physiological reports

2024 Volume 12, Issue 7, Page(s) e15956

Abstract: Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD), which is characterized by the formation of fluid-filled cysts in the kidney. In a subset of ADPKD patients, reduced blood calcium ( ... ...

Abstract	Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD), which is characterized by the formation of fluid-filled cysts in the kidney. In a subset of ADPKD patients, reduced blood calcium (Ca
MeSH term(s)	Animals ; Humans ; Mice ; Adenosine Triphosphate/metabolism ; Kidney/metabolism ; Mice, Knockout ; Mutation ; Polycystic Kidney, Autosomal Dominant/metabolism ; TRPP Cation Channels/genetics ; TRPP Cation Channels/metabolism ; TRPP Cation Channels/pharmacology ; Water-Electrolyte Balance
Chemical Substances	Adenosine Triphosphate (8L70Q75FXE) ; TRPP Cation Channels ; polycystic kidney disease 1 protein ; Panx1 protein, mouse
Language	English
Publishing date	2024-04-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2724325-4
ISSN	2051-817X ; 2051-817X
ISSN (online)	2051-817X
ISSN	2051-817X
DOI	10.14814/phy2.15956
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Article ; Online: Dietary magnesium supplementation inhibits abdominal vascular calcification in an experimental animal model of chronic kidney disease.

Leenders, Nicoline H J / Bos, Caro / Hoekstra, Tiny / Schurgers, Leon J / Vervloet, Marc G / Hoenderop, Joost G J

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2022 Volume 37, Issue 6, Page(s) 1049–1058

Abstract: Background: Vascular calcification is a key process involved in cardiovascular morbidity and mortality in patients with chronic kidney disease (CKD). Magnesium supplementation may counteract vascular calcification. In this study we aimed to determine ... ...

Abstract	Background: Vascular calcification is a key process involved in cardiovascular morbidity and mortality in patients with chronic kidney disease (CKD). Magnesium supplementation may counteract vascular calcification. In this study we aimed to determine whether increased dietary magnesium intake inhibits vascular calcification in CKD in vivo and explore the mechanisms underlying these effects. Methods: Sprague Dawley rats were partially nephrectomized and fed a diet with high phosphate and either high or normal magnesium content for 16 weeks. The primary outcome was the tissue calcium content of the aorta in the high versus normal dietary magnesium group. In addition, we analysed plasma mineral concentrations, aortic vascular calcification identified with von Kossa staining, calcium apposition time and aortic expression of genes related to vascular calcification. Results: The number of animals in the highest tissue calcium content tertile was significantly lower in the abdominal aorta [1 (10%) versus 6 (55%); P = .03] in the high versus normal dietary magnesium group, but did not differ in the aortic arch and thoracic aorta. Von Kossa staining and calcium apposition time corresponded to these results. The median tissue calcium content was not significantly different between the groups. Serum phosphate concentrations and expression of osteogenic markers in the aorta did not differ between the groups. Conclusions: This study demonstrates that increased dietary magnesium inhibits abdominal vascular calcification in an experimental animal model of CKD in vivo. These are promising results for CKD patients and further study is needed to identify the mechanisms involved and to determine the clinical relevance in patients.
MeSH term(s)	Animals ; Aorta, Abdominal ; Arteriosclerosis ; Calcium ; Dietary Supplements ; Disease Models, Animal ; Humans ; Magnesium/pharmacology ; Magnesium/therapeutic use ; Models, Animal ; Phosphates ; Rats ; Rats, Sprague-Dawley ; Renal Insufficiency, Chronic/drug therapy ; Vascular Calcification/etiology ; Vascular Calcification/prevention & control
Chemical Substances	Phosphates ; Magnesium (I38ZP9992A) ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2022-02-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfac026
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Zs.A 2198: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcription.

Tholen, Lotte E / Bos, Caro / Jansen, Pascal W T C / Venselaar, Hanka / Vermeulen, Michiel / Hoenderop, Joost G J / de Baaij, Jeroen H F

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

2021 Volume 35, Issue 4, Page(s) e21366

Abstract: Hepatocyte nuclear factor 1β (HNF1β) is an essential transcription factor in development of the kidney, liver, and pancreas. HNF1β-mediated transcription of target genes is dependent on the cell type and the development stage. Nevertheless, the ... ...

Abstract	Hepatocyte nuclear factor 1β (HNF1β) is an essential transcription factor in development of the kidney, liver, and pancreas. HNF1β-mediated transcription of target genes is dependent on the cell type and the development stage. Nevertheless, the regulation of HNF1β function by enhancers and co-factors that allow this cell-specific transcription is largely unknown. To map the HNF1β interactome we performed mass spectrometry in a mouse kidney inner medullary collecting duct cell line. Pterin-4a-carbinolamine dehydratase 2 (PCBD2) was identified as a novel interaction partner of HNF1β. PCBD2 and its close homolog PCBD1 shuttle between the cytoplasm and nucleus to exert their enzymatic and transcriptional activities. Although both PCBD proteins share high sequence identity (48% and 88% in HNF1 recognition helix), their tissue expression patterns are unique. PCBD1 is most abundant in kidney and liver while PCBD2 is also abundant in lung, spleen, and adipose tissue. Using immunolocalization studies and biochemical analysis we show that in presence of HNF1β the nuclear localization of PCBD1 and PCBD2 increases significantly. Promoter luciferase assays demonstrate that co-factors PCBD1 and PCBD2 differentially regulate the ability of HNF1β to activate the promoters of transcriptional targets important in renal electrolyte homeostasis. Deleting the N-terminal sequence of PCBD2, not found in PCBD1, diminished the differential effects of the co-factors on HNF1β activity. All together these results indicate that PCBD1 and PCBD2 can exert different effects on HNF1β-mediated transcription. Future studies should confirm whether these unique co-factor activities also apply to HNF1β-target genes involved in additional processes besides ion transport in the kidney.
MeSH term(s)	Animals ; Cell Line ; Gene Expression Regulation ; HEK293 Cells ; Hepatocyte Nuclear Factor 1-beta/genetics ; Hepatocyte Nuclear Factor 1-beta/metabolism ; Humans ; Hydro-Lyases/genetics ; Hydro-Lyases/metabolism ; Mass Spectrometry ; Mice ; Models, Molecular ; Potassium Channels, Inwardly Rectifying/genetics ; Potassium Channels, Inwardly Rectifying/metabolism ; Promoter Regions, Genetic ; Protein Conformation ; Protein Transport ; Transcription, Genetic
Chemical Substances	HNF1B protein, human ; KCNJ16 protein, human ; Potassium Channels, Inwardly Rectifying ; Hepatocyte Nuclear Factor 1-beta (138674-15-4) ; Hydro-Lyases (EC 4.2.1.-) ; PCBD2 protein, human (EC 4.2.1.-) ; pterin-4a-carbinolamine dehydratase (EC 4.2.1.96)
Language	English
Publishing date	2021-05-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639186-2
ISSN	1530-6860 ; 0892-6638
ISSN (online)	1530-6860
ISSN	0892-6638
DOI	10.1096/fj.202002022R
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Zs.A 2266: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: FAM111A is dispensable for electrolyte homeostasis in mice.

Ilenwabor, Barnabas P / Schigt, Heidi / Kompatscher, Andreas / Bos, Caro / Zuidscherwoude, Malou / van der Eerden, Bram C J / Hoenderop, Joost G J / de Baaij, Jeroen H F

Scientific reports

2022 Volume 12, Issue 1, Page(s) 10211

Abstract: Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and ... ...

Abstract	Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A to function in antiviral response and DNA replication, its role in regulating electrolyte homeostasis remains unknown. In this study, we assessed the role of FAM111A in the regulation of serum electrolyte balance using a Fam111a knockout (Fam111a
MeSH term(s)	Animals ; Humans ; Mice ; Calcium/metabolism ; Electrolytes/metabolism ; Hyperostosis, Cortical, Congenital/genetics ; Hypocalcemia/genetics ; Magnesium/metabolism ; Mice, Inbred C57BL ; Parathyroid Hormone/metabolism ; Receptors, Virus ; Serine Proteases/genetics ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism ; TRPM Cation Channels/metabolism ; Water-Electrolyte Balance
Chemical Substances	Calcium (SY7Q814VUP) ; Electrolytes ; Magnesium (I38ZP9992A) ; Parathyroid Hormone ; Receptors, Virus ; Serine Proteases (EC 3.4.-) ; Sodium-Phosphate Cotransporter Proteins, Type III ; TRPM Cation Channels ; Trpm7 protein, mouse (EC 2.7.1.-) ; FAM111A protein, mouse (EC 3.4.21.-)
Language	English
Publishing date	2022-06-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-14054-8
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Article ; Online: Colonic expression of calcium transporter TRPV6 is regulated by dietary sodium butyrate.

Gommers, Lisanne M M / van der Wijst, Jenny / Bos, Caro / Janssen, Luuk A M / Bindels, René J M / de Baaij, Jeroen H F / Hoenderop, Joost G J

Pflugers Archiv : European journal of physiology

2022 Volume 474, Issue 3, Page(s) 293–302

Abstract: Dietary fibers have been shown to increase the intestinal absorption of calcium ( ... ...

Abstract	Dietary fibers have been shown to increase the intestinal absorption of calcium (Ca
MeSH term(s)	Animals ; Butyric Acid/pharmacology ; Calcium/metabolism ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Colon ; Dietary Fiber/metabolism ; Dietary Fiber/pharmacology ; Mice ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sodium/metabolism ; Sodium Chloride, Dietary/metabolism ; Sodium, Dietary/metabolism ; Sodium, Dietary/pharmacology ; TRPM Cation Channels/metabolism ; TRPV Cation Channels/genetics ; TRPV Cation Channels/metabolism
Chemical Substances	Calcium Channels ; Dietary Fiber ; RNA, Messenger ; Sodium Chloride, Dietary ; Sodium, Dietary ; TRPM Cation Channels ; TRPV Cation Channels ; Trpv6 protein, mouse ; Butyric Acid (107-92-6) ; Sodium (9NEZ333N27) ; Trpm7 protein, mouse (EC 2.7.1.-) ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2022-01-07
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	6380-0
ISSN	1432-2013 ; 0031-6768
ISSN (online)	1432-2013
ISSN	0031-6768
DOI	10.1007/s00424-021-02648-6
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Article ; Online: SLC41A1 knockout mice display normal magnesium homeostasis.

Ilenwabor, Barnabas P / Franken, Gijs A C / Sponder, Gerhard / Bos, Caro / Racay, Peter / Kolisek, Martin / Hoenderop, Joost G J / de Baaij, Jeroen H F

American journal of physiology. Renal physiology

2022 Volume 323, Issue 5, Page(s) F553–F563

Abstract: Transcellular ... ...

Abstract	Transcellular Mg
MeSH term(s)	Animals ; Mice ; Cations ; Cyclins/metabolism ; Homeostasis ; Kidney Tubules, Distal/metabolism ; Magnesium/metabolism ; Mice, Knockout ; Mice, Transgenic ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism ; Cation Transport Proteins/genetics
Chemical Substances	Cations ; Cyclins ; Magnesium (I38ZP9992A) ; TRPM Cation Channels ; Trpm7 protein, mouse (EC 2.7.1.-) ; Slc41a1 protein, mouse ; Cation Transport Proteins
Language	English
Publishing date	2022-09-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	603837-2
ISSN	1522-1466 ; 0363-6127
ISSN (online)	1522-1466
ISSN	0363-6127
DOI	10.1152/ajprenal.00101.2022
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Article ; Online: Diabetes-induced hypomagnesemia is not modulated by metformin treatment in mice.

Kurstjens, Steef / Bouras, Hacene / Overmars-Bos, Caro / Kebieche, Mohamed / Bindels, René J M / Hoenderop, Joost G J / de Baaij, Jeroen H F

Scientific reports

2019 Volume 9, Issue 1, Page(s) 1770

Abstract: Approximately 30% of patients with type 2 diabetes mellitus (T2D) have hypomagnesemia (blood magnesium ( ... ...

Abstract	Approximately 30% of patients with type 2 diabetes mellitus (T2D) have hypomagnesemia (blood magnesium (Mg
MeSH term(s)	Animals ; Biomarkers ; Diabetes Complications/blood ; Diabetes Complications/drug therapy ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/drug therapy ; Disease Models, Animal ; Gene Expression ; Hypoglycemic Agents/pharmacology ; Hypoglycemic Agents/therapeutic use ; Kidney/drug effects ; Kidney/metabolism ; Magnesium/blood ; Metformin/pharmacology ; Metformin/therapeutic use ; Mice ; Mice, Transgenic ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism
Chemical Substances	Biomarkers ; Hypoglycemic Agents ; TRPM Cation Channels ; Trpm6 protein, mouse ; Metformin (9100L32L2N) ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2019-02-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-018-38351-3
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Article ; Online: Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects.

Franken, Gijs A C / Seker, Murat / Bos, Caro / Siemons, Laura A H / van der Eerden, Bram C J / Christ, Annabel / Hoenderop, Joost G J / Bindels, René J M / Müller, Dominik / Breiderhoff, Tilman / de Baaij, Jeroen H F

Scientific reports

2021 Volume 11, Issue 1, Page(s) 8217

Abstract: Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is under debate, the protein is considered essential for renal ... ...

Abstract	Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is under debate, the protein is considered essential for renal Mg
MeSH term(s)	Animals ; Animals, Newborn ; Cation Transport Proteins/genetics ; Embryo, Mammalian ; Female ; Intellectual Disability/blood ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnesium/blood ; Magnesium Deficiency/blood ; Magnesium Deficiency/complications ; Magnesium Deficiency/genetics ; Magnesium Deficiency/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Pregnancy ; Seizures/blood ; Seizures/complications ; Seizures/genetics
Chemical Substances	Cation Transport Proteins ; Cnnm2 protein, mouse ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2021-04-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-87548-6
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Article ; Online: Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

Vargas-Poussou, Rosa / Claverie-Martin, Felix / Prot-Bertoye, Caroline / Carotti, Valentina / van der Wijst, Jenny / Perdomo-Ramirez, Ana / Fraga-Rodriguez, Gloria M / Hureaux, Marguerite / Bos, Caro / Latta, Femke / Houillier, Pascal / Hoenderop, Joost G J / de Baaij, Jeroen H F

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2022 Volume 38, Issue 3, Page(s) 679–690

Abstract: Background: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum ... ...

Abstract	Background: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum magnesium (Mg2+) levels and suffer from muscle cramps and seizures. Despite genetic testing, a subgroup of HSH patients remains without a diagnosis. Methods: In this study, two families with an HSH phenotype but negative for TRPM6 pathogenic variants were subjected to whole exome sequencing. Using a complementary combination of biochemical and functional analyses in overexpression systems and patient-derived fibroblasts, the effect of the TRPM7-identified variants on Mg2+ transport was examined. Results: For the first time, variants in TRPM7 were identified in two families as a potential cause for hereditary HSH. Patients suffer from seizures and muscle cramps due to magnesium deficiency and episodes of hypocalcaemia. In the first family, a splice site variant caused the incorporation of intron 1 sequences into the TRPM7 messenger RNA and generated a premature stop codon. As a consequence, patient-derived fibroblasts exhibit decreased cell growth. In the second family, a heterozygous missense variant in the pore domain resulted in decreased TRPM7 channel activity. Conclusions: We establish TRPM7 as a prime candidate gene for autosomal dominant hypomagnesaemia and secondary hypocalcaemia. Screening of unresolved patients with hypocalcaemia and secondary hypocalcaemia may further establish TRPM7 pathogenic variants as a novel Mendelian disorder.
MeSH term(s)	Humans ; Magnesium ; Hypocalcemia ; TRPM Cation Channels/metabolism ; Muscle Cramp/complications ; Protein Serine-Threonine Kinases/metabolism
Chemical Substances	Magnesium (I38ZP9992A) ; TRPM Cation Channels ; TRPM7 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2022-05-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfac182
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