Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia

Nephron - Physiology

Volumn 117, Issue 2, 2011, Pages

  Woudenberg Vrenken, Titia E ^a   Sukinta, Arjaree ^a   Van Der Kemp, Annemiete W ^a   Bindels, René J M ^a   Hoenderop, Joost G J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Hypomagnesemia; Knockout mouse; Magnesium (re)absorption; Transient receptor potential melastatin 6; Transient receptor potential melastatin 7

Indexed keywords

CALCIUM; MAGNESIUM ION; MESSENGER RNA; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRANSIENT RECEPTOR POTENTIAL MELASTATIN 6; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; BODY WEIGHT; BREEDING; CALCIUM BLOOD LEVEL; CALCIUM EXCRETION; CALCIUM URINE LEVEL; COLON; CONTROLLED STUDY; DIET; DIET SUPPLEMENTATION; FEMALE; GENE DELETION; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HYPOMAGNESEMIA; INTESTINE; KIDNEY; KNOCKOUT MOUSE; LETHALITY; MAGNESIUM BLOOD LEVEL; MAGNESIUM EXCRETION; MAGNESIUM URINE LEVEL; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROGENY; PROTEIN HOMEOSTASIS; PROTEIN LOCALIZATION; REAL TIME POLYMERASE CHAIN REACTION; WILD TYPE;

ANIMALS; CALCIUM; FECES; FEMALE; GENE DELETION; GENE EXPRESSION; GENES, LETHAL; GENOTYPE; HETEROZYGOTE; MAGNESIUM; MAGNESIUM DEFICIENCY; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; SEVERITY OF ILLNESS INDEX; TRPM CATION CHANNELS;

EID: 77956132528     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000320580     Document Type: Article

References (30)

1. Flatman PW: Magnesium transport across cell membranes. J Membr Biol 1984;80:1-14.
2. Quamme GA, Dirks JH: Magnesium transport in the nephron. Am J Physiol 1980;239: F393-F401.
3. Fine KD, Santa Ana CA, Porter JL, Fordtran JS: Intestinal absorption of magnesium from food and supplements. J Clin Invest 1991;88:396-402.
4. de Rouffignac C, Quamme G: Renal magnesium handling and its hormonal control. Physiol Rev 1994;74:305-322.
5. Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D: Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 1968;41:385-402.
6. Lombeck I, Ritzl F, Schnippering HG, Michael H, Bremer HJ, Feinendegen LE, Kosenow W: Primary hypomagnesemia. 1. Absorption studies. Z Kinderheilkd 1975;118:249-258.
7. Milla PJ, Aggett PJ, Wolff OH, Harries JT: Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium. Gut 1979;20:1028-1033.
8. Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 2002;31:171-174.
9. Anast CS, Mohs JM, Kaplan SL, Burns TW: Evidence for parathyroid failure in magnesium deficiency. Science 1972;177:606-608.
10. Shalev H, Phillip M, Galil A, Carmi R, Landau D: Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 1998;78:127-130.
11. Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M: Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005;16:3061-3069.
12. Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002;31:166-170.
13. 2+ absorption. J Biol Chem 2004;279:19-25.
14. Riazanova LV, Pavur KS, Petrov AN, Dorovkov MV, Riazanov AG: Novel type of signaling molecules: protein kinases covalently linked to ion channels. Mol Biol (Mosk) 2001;35:321-332.
15. Nadler MJ, Hermosura MC, Inabe K, Perraud AL, Zhu Q, Stokes AJ, Kurosaki T, Kinet JP, Penner R, Scharenberg AM, Fleig A: LTRPC7 is a Mg. ATP-regulated divalent cation channel required for cell viability. Nature 2001;411:590-595.
16. Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T: Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc Natl Acad Sci USA 2004;101:2894-2899.
17. Chubanov V, Schlingmann K P, Waring J, Heinzinger J, Kaske S, Waldegger S, Mederos y Schnitzler M, Gudermann T: Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative poreforming region of TRPM6. J Biol Chem 2007;282:7656-7667.
18. Esteban-Oliva D, Pintos-Morell G, Konrad M: Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation. Eur J Pediatr 2009;168:439-442.
19. 2+ content and estrogens. J Am Soc Nephrol 2006;17:1035-1043.
20. Rondon LJ, Groenestege WM, Rayssiguier Y, Mazur A: Relationship between low magnesium status and TRPM6 expression in the kidney and large intestine. Am J Physiol Regul Integr Comp Physiol 2008;294: R2001-R2007.
21. Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ: Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 2007;117:2260-2267.
22. Thebault S, Alexander RT, Tiel Groenestege WM, Hoenderop JG, Bindels RJ: EGF increases TRPM6 activity and surface expression. J Am Soc Nephrol 2009;20:78-85.
23. Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ: A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 2009;119:936-942.
24. Runnels LW, Yue L, Clapham DE: TRP-PLIK, a bifunctional protein with kinase and ion channel activities. Science 2001;291:1043-1047.
25. 2+ homeostasis by TRPM7. Cell 2003;114:191-200.
26. Elizondo MR, Arduini BL, Paulsen J, Mac Donald EL, Sabel JL, Henion PD, Cornell RA, Parichy DM: Defective skeletogenesis with kidney stone formation in dwarf zebrafish mutant for TRPM7. Curr Biol 2005;15:667-671.
27. 2+ homeostasis. Science 2008;322:756-760.
28. Walder RY, Yang B, Stokes JB, Kirby PA, Cao X, Shi P, Searby CC, Husted RF, Sheffield VC: Mice defective in TRPM6 show embryonic mortality and neural tube defects. Hum Mol Genet 2009;18:4367-4375.
29. Hoenderop JG, Muller D, Van der Kemp AW, Hartog A, Suzuki M, Ishibashi K, Imai M, Sweep F, Willems PH, Van Os CH, Bindels RJ: Calcitriol controls the epithelial calcium channel in kidney. J Am Soc Nephrol 2001;12:1342-1349.
30. Gu H, Marth JD, Orban PC, Mossmann H, Rajewsky K: Deletion of a DNA polymerase beta gene segment in T cells using cell typespecific gene ta rgeting. Science 1994;265:103-106.