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Article ; Online: Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome.

Lameris, Anke L L / Geesing, Christel L M / Hoenderop, Joost G J / Schreuder, Michiel F

Journal of pediatric endocrinology & metabolism : JPEM

2014 Volume 27, Issue 7-8, Page(s) 757–761

Abstract: Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by the deletion of 26-28 genes on chromosome 7. Fifteen percent of WBS patients present with hypercalcaemia during infancy, which is generally mild and resolves spontaneously ... ...

Abstract	Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by the deletion of 26-28 genes on chromosome 7. Fifteen percent of WBS patients present with hypercalcaemia during infancy, which is generally mild and resolves spontaneously before the age of 4 years. The mechanisms underlying the transient hypercalcaemia in WBS are poorly understood. Case: We report a case of severe symptomatic hypercalcaemia in a patient with WBS, in which treatment with mild calcium restriction, hyperhydration and repeated bisphosphonate administration only resulted in short-lasting effects. Long-term lowering of serum calcium was only achieved after reducing calcium and vitamin D intake to the bare minimum. Conclusions: This case illustrates the potential severity of hypercalcaemia in WBS, and demonstrates that both the cause as well as the solution of this problem may be found in the intestinal absorption of calcium. We hypothesise that the phenotypical resemblance between WBS and transient idiopathic infantile hypercalcaemia can be explained by similarities in the underlying genetic defect. Patients suffering from transient infantile hypercalcaemia were recently described to have mutations in CYP24A1, the key enzyme in 1,25-dihydroxyvitamin D3 degradation. In the light of this new development we discuss the role of one of the deleted genes in WBS, Williams syndrome transcription factor (WSTF), in the etiology of hypercalcaemia in WBS.
MeSH term(s)	Calcitriol/metabolism ; Calcium, Dietary/administration & dosage ; Child, Preschool ; Diphosphonates/therapeutic use ; Female ; Gene Deletion ; Humans ; Hypercalcemia/diet therapy ; Hypercalcemia/etiology ; Infant ; Infant, Newborn, Diseases/diet therapy ; Infant, Newborn, Diseases/etiology ; Intestinal Absorption ; Metabolism, Inborn Errors/diet therapy ; Metabolism, Inborn Errors/etiology ; Transcription Factors/genetics ; Williams Syndrome/diet therapy
Chemical Substances	BAZ1B protein, human ; Calcium, Dietary ; Diphosphonates ; Transcription Factors ; Calcitriol (FXC9231JVH) ; pamidronate (OYY3447OMC)
Language	English
Publishing date	2014-07
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2013-0229
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Article ; Online: The impact of formative testing on study behaviour and study performance of (bio)medical students: a smartphone application intervention study.

Lameris, Anke L / Hoenderop, Joost G J / Bindels, René J M / Eijsvogels, Thijs M H

BMC medical education

2015 Volume 15, Page(s) 72

Abstract: Background: Formative testing can increase knowledge retention but students often underuse available opportunities. Applying modern technology to make the formative tests more attractive for students could enhance the implementation of formative testing ...

Abstract	Background: Formative testing can increase knowledge retention but students often underuse available opportunities. Applying modern technology to make the formative tests more attractive for students could enhance the implementation of formative testing as a learning tool. This study aimed to determine whether formative testing using an internet-based application ("app") can positively affect study behaviour as well as study performance of (bio)medical students. Methods: A formative testing app "Physiomics, to the next level" was introduced during a 4-week course to a large cohort (n = 461) of Dutch first year (bio)medical students of the Radboud University. The app invited students to complete 7 formative tests throughout the course. Each module was available for 3-4 days to stimulate the students to distribute their study activities throughout the 4-week course. Results: 72% of the students used the app during the course. Study time significantly increased in intensive users (p < 0.001), while no changes were observed in moderate (p = 0.07) and non-users (p = 0.25). App-users obtained significantly higher grades during the final exam of the course (p < 0.05). Non-users more frequently failed their final exam (34%, OR 3.6, 95% CI: 2.0-6.4) compared to moderate users (19%) and intensive users (12%). Students with an average grade <6.5 during previous courses benefitted most from the app, as intensive (5.8 ± 0.9 / 36%) and moderate users (5.8 ± 0.9 / 33%) obtained higher grades and failed their exam less frequently compared to non-users (5.2 ± 1.1 / 61%). The app was also well appreciated by students; students scored the app with a grade of 7.3 ± 1.0 out of 10 and 59% of the students indicated that they would like the app to be implemented in future courses. Conclusions: A smartphone-based application of formative testing is an effective and attractive intervention to stimulate study behaviour and improve study performance in (bio) medical students.
MeSH term(s)	Achievement ; Cohort Studies ; Computer-Assisted Instruction ; Curriculum ; Education, Medical, Undergraduate ; Educational Measurement ; Female ; Humans ; Male ; Mobile Applications ; Netherlands ; Patient-Specific Modeling ; Retention (Psychology) ; Smartphone ; Test Taking Skills
Language	English
Publishing date	2015-04-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2044473-4
ISSN	1472-6920 ; 1472-6920
ISSN (online)	1472-6920
ISSN	1472-6920
DOI	10.1186/s12909-015-0351-0
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Article ; Online: Segmental transport of Ca²⁺ and Mg²⁺ along the gastrointestinal tract.

Lameris, Anke L / Nevalainen, Pasi I / Reijnen, Daphne / Simons, Ellen / Eygensteyn, Jelle / Monnens, Leo / Bindels, René J M / Hoenderop, Joost G J

American journal of physiology. Gastrointestinal and liver physiology

2015 Volume 308, Issue 3, Page(s) G206–16

Abstract: Calcium (Ca(2+)) and magnesium (Mg(2+)) ions are involved in many vital physiological functions. Since dietary intake is the only source of minerals for the body, intestinal absorption is essential for normal homeostatic levels. The aim of this study was ...

Abstract	Calcium (Ca(2+)) and magnesium (Mg(2+)) ions are involved in many vital physiological functions. Since dietary intake is the only source of minerals for the body, intestinal absorption is essential for normal homeostatic levels. The aim of this study was to characterize the absorption of Ca(2+) as well as Mg(2+) along the gastrointestinal tract at a molecular and functional level. In both humans and mice the Ca(2+) channel transient receptor potential vanilloid subtype 6 (TRPV6) is expressed in the proximal intestinal segments, whereas Mg(2+) channel transient receptor potential melastatin subtype 6 (TRPM6) is expressed in the distal parts of the intestine. A method was established to measure the rate of Mg(2+) absorption from the intestine in a time-dependent manner by use of (25)Mg(2+). In addition, local absorption of Ca(2+) and Mg(2+) in different segments of the intestine of mice was determined by using surgically implanted intestinal cannulas. By these methods, it was demonstrated that intestinal absorption of Mg(2+) is regulated by dietary needs in a vitamin D-independent manner. Also, it was shown that at low luminal concentrations, favoring transcellular absorption, Ca(2+) transport mainly takes place in the proximal segments of the intestine, whereas Mg(2+) absorption predominantly occurs in the distal part of the gastrointestinal tract. Vitamin D treatment of mice increased serum Mg(2+) levels and 24-h urinary Mg(2+) excretion, but not intestinal absorption of (25)Mg(2+). Segmental cannulation of the intestine and time-dependent absorption studies using (25)Mg(2+) provide new ways to study intestinal Mg(2+) absorption.
MeSH term(s)	Animals ; Biological Transport/physiology ; Calcium/metabolism ; Calcium Channels/metabolism ; Gastrointestinal Tract/metabolism ; Homeostasis/physiology ; Humans ; Kidney/metabolism ; Magnesium/metabolism ; Male ; Mice, Inbred C57BL ; TRPM Cation Channels/metabolism ; TRPV Cation Channels/metabolism
Chemical Substances	Calcium Channels ; TRPM Cation Channels ; TRPM6 protein, human ; TRPV Cation Channels ; TRPV6 protein, human ; Trpm6 protein, mouse ; Trpv6 protein, mouse ; Magnesium (I38ZP9992A) ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2015-02-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603840-2
ISSN	1522-1547 ; 0193-1857
ISSN (online)	1522-1547
ISSN	0193-1857
DOI	10.1152/ajpgi.00093.2014
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Article ; Online: Drug-induced alterations in Mg2+ homoeostasis.

Lameris, Anke L / Monnens, Leo A / Bindels, René J / Hoenderop, Joost G J

Clinical science (London, England : 1979)

2012 Volume 123, Issue 1, Page(s) 1–14

Abstract: Magnesium (Mg2+) balance is tightly regulated by the concerted actions of the intestine, bone and kidneys. This balance can be disturbed by a broad variety of drugs. Diuretics, modulators of the EGFR (epidermal growth factor receptor), proton pump ... ...

Abstract	Magnesium (Mg2+) balance is tightly regulated by the concerted actions of the intestine, bone and kidneys. This balance can be disturbed by a broad variety of drugs. Diuretics, modulators of the EGFR (epidermal growth factor receptor), proton pump inhibitors, antimicrobials, calcineurin inhibitors and cytostatics may all cause hypomagnesaemia, potentially leading to tetany, seizures and cardiac arrhythmias. Conversely, high doses of Mg2+ salts, frequently administered as an antacid or a laxative, may lead to hypermagnesaemia causing various cardiovascular and neuromuscular abnormalities. A better understanding of the molecular mechanisms underlying the adverse effects of these medications on Mg2+ balance will indicate ways of prevention and treatment of these adverse effects and could potentially provide more insight into Mg2+ homoeostasis.
MeSH term(s)	Antacids/adverse effects ; Anti-Infective Agents/adverse effects ; Diuretics/adverse effects ; Gastrointestinal Agents/adverse effects ; Homeostasis/drug effects ; Humans ; Immunosuppressive Agents/adverse effects ; Magnesium/metabolism ; Metabolic Diseases/chemically induced ; Metabolic Diseases/diagnosis ; Metabolic Diseases/metabolism ; Metabolic Diseases/therapy ; Proton Pump Inhibitors/adverse effects ; Receptor, Epidermal Growth Factor/antagonists & inhibitors
Chemical Substances	Antacids ; Anti-Infective Agents ; Diuretics ; Gastrointestinal Agents ; Immunosuppressive Agents ; Proton Pump Inhibitors ; Receptor, Epidermal Growth Factor (EC 2.7.10.1) ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2012-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	206835-7
ISSN	1470-8736 ; 0301-0538 ; 0009-0360 ; 0143-5221
ISSN (online)	1470-8736
ISSN	0301-0538 ; 0009-0360 ; 0143-5221
DOI	10.1042/CS20120045
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Article ; Online: Identification of SLC41A3 as a novel player in magnesium homeostasis.

de Baaij, Jeroen H F / Arjona, Francisco J / van den Brand, Michiel / Lavrijsen, Marla / Lameris, Anke L L / Bindels, René J M / Hoenderop, Joost G J

Scientific reports

2016 Volume 6, Page(s) 28565

Abstract: Regulation of the body Mg(2+) balance takes place in the distal convoluted tubule (DCT), where transcellular reabsorption determines the final urinary Mg(2+) excretion. The basolateral Mg(2+) extrusion mechanism in the DCT is still unknown, but recent ... ...

Abstract	Regulation of the body Mg(2+) balance takes place in the distal convoluted tubule (DCT), where transcellular reabsorption determines the final urinary Mg(2+) excretion. The basolateral Mg(2+) extrusion mechanism in the DCT is still unknown, but recent findings suggest that SLC41 proteins contribute to Mg(2+) extrusion. The aim of this study was, therefore, to characterize the functional role of SLC41A3 in Mg(2+) homeostasis using the Slc41a3 knockout (Slc41a3(-/-)) mouse. By quantitative PCR analysis it was shown that Slc41a3 is the only SLC41 isoform with enriched expression in the DCT. Interestingly, serum and urine electrolyte determinations demonstrated that Slc41a3(-/-) mice suffer from hypomagnesemia. The intestinal Mg(2+) absorption capacity was measured using the stable (25)Mg(2+) isotope in mice fed a low Mg(2+) diet. (25)Mg(2+) uptake was similar in wildtype (Slc41a3(+/+)) and Slc41a3(-/-) mice, although Slc41a3(-/-) animals exhibited increased intestinal mRNA expression of Mg(2+) transporters Trpm6 and Slc41a1. Remarkably, some of the Slc41a3(-/-) mice developed severe unilateral hydronephrosis. In conclusion, SLC41A3 was established as a new factor for Mg(2+) handling.
Language	English
Publishing date	2016-06-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/srep28565
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Article ; Online: Expression profiling of claudins in the human gastrointestinal tract in health and during inflammatory bowel disease.

Lameris, Anke L / Huybers, Sylvie / Kaukinen, Katri / Mäkelä, Tuula H / Bindels, René J / Hoenderop, Joost G / Nevalainen, Pasi I

Scandinavian journal of gastroenterology

2013 Volume 48, Issue 1, Page(s) 58–69

Abstract: Background: Claudins, being part of the tight junction protein family, partially determine the integrity and paracellular permeability of the intestinal epithelium. The aim of this study was twofold. First, the authors set out to create an overview of ... ...

Abstract	Background: Claudins, being part of the tight junction protein family, partially determine the integrity and paracellular permeability of the intestinal epithelium. The aim of this study was twofold. First, the authors set out to create an overview of claudin mRNA expression along the proximal-distal axis of the healthy human intestine. Second, the authors aimed to analyze expression levels of claudins in patients with active and inactive inflammatory bowel diseases (IBD) such as Crohn's disease or ulcerative colitis (UC). Methods: mRNA expression levels of claudins were determined in gastrointestinal biopsies from healthy patients as well as patients diagnosed with IBD using SybrGreen real-time PCR. Results: Claudins show distinct expression patterns throughout the gastrointestinal tract. Some claudins show a proximal expression pattern, such as CLDN18 which is solely expressed in the stomach, and CLDN2 and -15 that are predominantly expressed in the proximal parts of the gastrointestinal tract. Other claudins, such as CLDN3, -4, -7 and -8, are predominantly expressed in the distal parts of the gastrointestinal tract or show a ubiquitous expression pattern throughout the entire gastrointestinal tract, which is the case for CLDN12. In addition, we show that changes in claudin expression in IBD are dependent on gastrointestinal location and inflammatory activity. Conclusions: This study provides detailed mRNA expression patterns of various claudins throughout the human gastrointestinal tract. Analysis of expression levels of claudins in patients with CD, active and inactive UC shows that changes in expression are confined to specific intestinal segments and strongly depend on inflammatory activity.
MeSH term(s)	Adolescent ; Adult ; Aged ; Case-Control Studies ; Claudins/genetics ; Claudins/metabolism ; Colitis, Ulcerative/etiology ; Colitis, Ulcerative/metabolism ; Colitis, Ulcerative/pathology ; Crohn Disease/etiology ; Crohn Disease/metabolism ; Crohn Disease/pathology ; Female ; Gene Expression Profiling ; Humans ; Intestinal Mucosa/metabolism ; Intestinal Mucosa/pathology ; Male ; Middle Aged ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA, Messenger/metabolism ; Real-Time Polymerase Chain Reaction ; Young Adult
Chemical Substances	Claudins ; Protein Isoforms ; RNA, Messenger
Language	English
Publishing date	2013-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	82042-8
ISSN	1502-7708 ; 0036-5521
ISSN (online)	1502-7708
ISSN	0036-5521
DOI	10.3109/00365521.2012.741616
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Article ; Online: Flavaglines Stimulate Transient Receptor Potential Melastatin Type 6 (TRPM6) Channel Activity.

Blanchard, Maxime G / de Baaij, Jeroen H F / Verkaart, Sjoerd A J / Lameris, Anke L / Basmadjian, Christine / Zhao, Qian / Désaubry, Laurent / Bindels, René J M / Hoenderop, Joost G J

PloS one

2015 Volume 10, Issue 3, Page(s) e0119028

Abstract: Magnesium (Mg2+) is essential for enzymatic activity, brain function and muscle contraction. Blood Mg2+ concentrations are tightly regulated between 0.7 and 1.1 mM by Mg2+ (re)absorption in kidney and intestine. The apical entry of Mg2+ in (re)absorbing ... ...

Abstract	Magnesium (Mg2+) is essential for enzymatic activity, brain function and muscle contraction. Blood Mg2+ concentrations are tightly regulated between 0.7 and 1.1 mM by Mg2+ (re)absorption in kidney and intestine. The apical entry of Mg2+ in (re)absorbing epithelial cells is mediated by the transient receptor potential melastatin type 6 (TRPM6) ion channel. Here, flavaglines are described as a novel class of stimulatory compounds for TRPM6 activity. Flavaglines are a group of natural and synthetic compounds that target the ubiquitously expressed prohibitins and thereby affect cellular signaling. By whole-cell patch clamp analyses, it was demonstrated that nanomolar concentrations of flavaglines increases TRPM6 activity by ∼2 fold. The stimulatory effects were dependent on the presence of the alpha-kinase domain of TRPM6, but did not require its phosphotransferase activity. Interestingly, it was observed that two natural occurring TRPM6 mutants with impaired insulin-sensitivity, TRPM6-p.Val1393Ile and TRPM6-p.Lys1584Glu, are not sensitive to flavagline stimulation. In conclusion, we have identified flavaglines as potent activators of TRPM6 activity. Our results suggest that flavaglines stimulate TRPM6 via the insulin receptor signaling pathway.
MeSH term(s)	Benzofurans/pharmacology ; Binding Sites ; HEK293 Cells ; Humans ; Magnesium/metabolism ; Mutation ; Protein Structure, Tertiary ; Repressor Proteins/metabolism ; Signal Transduction ; TRPM Cation Channels/chemistry ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism
Chemical Substances	Benzofurans ; Repressor Proteins ; TRPM Cation Channels ; TRPM6 protein, human ; prohibitin ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2015
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0119028
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Article ; Online: Functional TRPV6 channels are crucial for transepithelial Ca2+ absorption.

Woudenberg-Vrenken, Titia E / Lameris, Anke L / Weißgerber, Petra / Olausson, Jenny / Flockerzi, Veit / Bindels, René J M / Freichel, Marc / Hoenderop, Joost G J

American journal of physiology. Gastrointestinal and liver physiology

2012 Volume 303, Issue 7, Page(s) G879–85

Abstract: TRPV6 is considered the primary protein responsible for transcellular Ca2+ absorption. In vitro studies demonstrate that a negatively charged amino acid (D) within the putative pore region of mouse TRPV6 (position 541) is critical for Ca2+ permeation of ... ...

Abstract	TRPV6 is considered the primary protein responsible for transcellular Ca2+ absorption. In vitro studies demonstrate that a negatively charged amino acid (D) within the putative pore region of mouse TRPV6 (position 541) is critical for Ca2+ permeation of the channel. To elucidate the role of TRPV6 in transepithelial Ca2+ transport in vivo, we functionally analyzed a TRPV6D541A/D541A knockin mouse model. After weaning, mice were fed a regular (1% wt/wt) or Ca2+-deficient (0.02% wt/wt) diet and housed in metabolic cages. Blood was sampled for Ca2+ measurements, and the expression of Ca2+ transport proteins was analyzed in kidney and duodenum. Intestinal 45Ca2+ uptake was measured in vivo by an absorption assay. Challenging the mice with the Ca2+-deficient diet resulted in hypocalcemia in wild-type and TRPV6D541A/D541A mice. On a low-Ca2+ diet both mouse strains displayed increased expression of intestinal TRPV6, calbindin-D(9K), and renal TRPV5. TRPV6D541A/D541A mice showed significantly impaired intestinal Ca2+ uptake compared with wild-type mice, and duodenal TRPV5 expression was increased in TRPV6D541A/D541A mice. On a normal diet, serum Ca2+ concentrations normalized in both mouse strains. Under these conditions, intestinal Ca2+ uptake was similar, and the expression levels of renal and intestinal Ca2+ transport proteins were not affected. We demonstrate that TRPV6D541A/D541A mice exhibit impaired transcellular Ca2+ absorption. Duodenal TRPV5 expression was increased in TRPV6D541A/D541A mice, albeit insufficient to correct for the diminished Ca2+ absorption. Under normal conditions, when passive Ca2+ transport is predominant, no differences between wild-type and TRPV6D541A/D541A mice were observed. Our results demonstrate a specific role for TRPV6 in transepithelial Ca2+ absorption.
MeSH term(s)	Animals ; Calbindins ; Calcium/blood ; Calcium/pharmacokinetics ; Calcium Channels/metabolism ; Calcium-Binding Proteins/metabolism ; Diet/adverse effects ; Diet/methods ; Hypocalcemia/metabolism ; Intestinal Absorption/physiology ; Intestinal Mucosa/physiology ; Kidney/metabolism ; Mice ; Mice, Knockout ; S100 Calcium Binding Protein G/metabolism ; TRPV Cation Channels/genetics ; TRPV Cation Channels/metabolism ; Transcytosis
Chemical Substances	Calbindins ; Calcium Channels ; Calcium-Binding Proteins ; S100 Calcium Binding Protein G ; TRPV Cation Channels ; TRPV6 channel ; Trpv5 protein, mouse ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2012-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603840-2
ISSN	1522-1547 ; 0193-1857
ISSN (online)	1522-1547
ISSN	0193-1857
DOI	10.1152/ajpgi.00089.2012
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Article ; Online: Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease.

Waanders, Esmé / Van Krieken, J Han J M / Lameris, Anke L L / Drenth, Joost P H

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

2008 Volume 21, Issue 11, Page(s) 1293–1302

Abstract: The pathogenesis of polycystic liver disease is not well understood. The putative function of the associated proteins, hepatocystin and Sec63p, do not give insight in their role in cystogenesis and their tissue-wide expression does not fit with the liver- ...

Abstract	The pathogenesis of polycystic liver disease is not well understood. The putative function of the associated proteins, hepatocystin and Sec63p, do not give insight in their role in cystogenesis and their tissue-wide expression does not fit with the liver-specific phenotype of the disease. We designed this study with the specific aim to dissect whether pathways involved in polycystic kidney diseases are also implicated in polycystic liver disease. Therefore, we immunohistochemically stained cyst tissue specimen with antibodies directed against markers for apoptosis, proliferation, growth receptors, signaling and adhesion. We analyzed genotyped polycystic liver disease cyst tissue (n=21) compared with normal liver tissue (n=13). None of the cysts showed proliferation of epithelial cells. In addition, anti-apoptosis marker Bcl-2 revealed slight increase in expression, with variable increase of apoptosis marker active caspase 3. Growth factor receptors, EGFR and c-erbB-2, were overexpressed and mislocalized. We found EGFR staining in the nuclei of cyst epithelial cells regardless of mutational state of the patient. Further, in hepatocystin-mutant polycystic liver disease patients, apical membranous staining of c-erbB-2 and adhesion markers, MUC1 and CEA, was lost and the proteins appeared to be retained in cytoplasm of cyst epithelia. Finally, we found loss of adhesion molecules E-cadherin and Ep-CAM in cyst epithelium of all patients. Nevertheless, we observed normal beta-catenin expression. Our results show that polycystic liver disease cystogenesis is different from renal cystogenesis. Polycystic liver disease involves overexpression of growth factor receptors and loss of adhesion. In contrast, proliferation or deregulated apoptosis do not seem to be implicated. Moreover differential findings for PRKCSH- and SEC63-associated polycystic liver disease suggest a divergent mechanism for cystogenesis in these two groups.
MeSH term(s)	Adult ; Aged ; Apoptosis ; Biomarkers/metabolism ; Carcinoembryonic Antigen/metabolism ; Cell Adhesion ; Cell Adhesion Molecules/metabolism ; Cell Nucleus/metabolism ; Cell Nucleus/pathology ; Cell Proliferation ; Cysts/metabolism ; Cysts/pathology ; ErbB Receptors/metabolism ; Female ; Humans ; Immunoenzyme Techniques ; Liver Diseases/metabolism ; Liver Diseases/pathology ; Male ; Middle Aged ; Mucin-1/metabolism ; Proto-Oncogene Proteins c-bcl-2/metabolism ; Receptor, ErbB-2/metabolism
Chemical Substances	Biomarkers ; Carcinoembryonic Antigen ; Cell Adhesion Molecules ; MUC1 protein, human ; Mucin-1 ; Proto-Oncogene Proteins c-bcl-2 ; EGFR protein, human (EC 2.7.10.1) ; ErbB Receptors (EC 2.7.10.1) ; Receptor, ErbB-2 (EC 2.7.10.1)
Language	English
Publishing date	2008-06-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	645073-8
ISSN	1530-0285 ; 0893-3952
ISSN (online)	1530-0285
ISSN	0893-3952
DOI	10.1038/modpathol.2008.115
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Article ; Online: Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis?

Lameris, Anke L L / Huybers, Sylvie / Burke, John R / Monnens, Leo A / Bindels, René J M / Hoenderop, Joost G J

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

2010 Volume 25, Issue 11, Page(s) 3504–3509

Abstract: ... array for genomic DNA.: Results: The serum Ca(2+) levels of patients were 2.9, 3.3 and 3.8 mmol/L ... normal <2.7 mmol/L). Levels of 25-hydroxyvitamin D(3) and 1,25-dihydroxyvitamin D(3) were normal ...

Abstract	Background: Idiopathic infantile hypercalcaemia (IIH) is a rare disease that generally resolves spontaneously between the age of 1 and 3 years. Similar symptoms may occur in patients suffering from Williams-Beuren syndrome (WBS), which is caused by a microdeletion on chromosome 7. Two of the genes, named CLDN3 and CLDN4, located within this region are members of the claudin family that has been shown to be involved in paracellular calcium (Ca(2+)) absorption. Based on the hemizygous loss of CLDN3 and CLDN4 in WBS and the function of these genes in paracellular Ca(2+) transport, we hypothesized that mutations in CLDN3 or CLDN4 could also be involved in IIH. Methods: Biochemical characteristics, including calciotropic hormone levels, were obtained from three typical IIH patients. CLDN3 and CLDN4 sequences were also analysed in these patients. The major intestinal Ca(2+) transporter TRPV6 was also screened for the presence of mutations, since hypercalcaemia in IIH and WBS has been shown to result from intestinal hyperabsorption. All three patients were also analysed for the presence of deletions or duplications using a single-nucleotide polymorphism (SNP) array for genomic DNA. Results: The serum Ca(2+) levels of patients were 2.9, 3.3 and 3.8 mmol/L (normal <2.7 mmol/L). Levels of 25-hydroxyvitamin D(3) and 1,25-dihydroxyvitamin D(3) were normal, parathyroid hormone (PTH) and PTH-related peptide (PTHrP) levels were appropriately low. Sequencing of coding regions and intron-exon boundaries did not reveal mutations in CLDN3, CLDN4 and TRPV6. Identified SNPs were not correlated with the disease phenotype. A SNP array did not reveal genomic deletions or duplications. Conclusions: Biochemical analysis did not reveal inappropriate levels of calciotropic hormones in IIH patients in this study. Furthermore, based on the lack of mutations in CLDN3, CLDN4 and TRPV6, we conclude that IIH is neither caused by mutations in these candidate genes nor by deletions or duplications in the genome of these patients.
MeSH term(s)	Calcitriol/blood ; Calcium/blood ; Calcium Channels/genetics ; Claudin-3 ; Claudin-4 ; Humans ; Hypercalcemia/etiology ; Infant ; Membrane Proteins/genetics ; Membrane Proteins/physiology ; Parathyroid Hormone/blood ; Polymorphism, Single Nucleotide ; TRPV Cation Channels/genetics
Chemical Substances	CLDN3 protein, human ; CLDN4 protein, human ; Calcium Channels ; Claudin-3 ; Claudin-4 ; Membrane Proteins ; Parathyroid Hormone ; TRPV Cation Channels ; TRPV6 protein, human ; Calcitriol (FXC9231JVH) ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2010-11
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/gfq221
Database	MEDical Literature Analysis and Retrieval System OnLINE

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