A missense mutation in podocin leads to early and severe renal disease in mice

Kidney International

Volumn 73, Issue 9, 2008, Pages 1038-1047

  Philippe, A ^a,b   Weber, S ^a,b,c   Esquivel, E L ^a,b   Houbron, C ^b,d,e,f   Hamard, G ^b,d,e,f   Ratelade, J ^a,b   Kriz, W ^c   Schaefer, F ^c   Gubler, M C ^a,b   Antignac, C ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d INSTITUT COCHIN   (France)

^e INSERM   (France)

^f CNRS   (France)

Author keywords

Genetic renal disease; Nephrotic syndrome; Podocyte

Indexed keywords

CD2 ASSOCIATED PROTEIN; NEPHRIN; PLASMINOGEN ACTIVATOR INHIBITOR 1; PODOCIN; RESERPINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1B; TRANSCRIPTION FACTOR ZHX2; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; VASCULOTROPIN A;

ALBUMINURIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE; GENE EXPRESSION; GLOMERULOSCLEROSIS; IMMUNOHISTOCHEMISTRY; KIDNEY DISEASE; KIDNEY FAILURE; MISSENSE MUTATION; MOUSE; NEPHROTIC SYNDROME; NONHUMAN; NPHS2 GENE; PODOCYTE; PRIORITY JOURNAL; PROTEINURIA; REAL TIME POLYMERASE CHAIN REACTION; RNA EXTRACTION; SCLEROSIS; URINALYSIS; WESTERN BLOTTING;

EID: 42149179445     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2008.27     Document Type: Article

References (28)

1. Boute N, Gribouval O, Roselli S et al. NPHS2 encoding the glomerular protein podocin is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349-354.
2. Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571-579.
3. Karle SM, Uetz B, Ronner V et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2002; 13: 388-393.
4. Hinkes BG, Mucha B, Vlangos CN et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 2007; 119: e907-e919.
5. Tsukaguchi H, Sudhakar A, Le TC et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 2002; 110: 1659-1666.
6. Roselli S, Moutkine I, Gribouval O et al. Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic 2004; 5: 37-44.
7. Schwarz K, Simons M, Reiser J et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001; 108: 1621-1629.
8. Benzing T. Signaling at the slit diaphragm. J Am Soc Nephrol 2004; 15: 1382-1391.
9. Huber TB, Simons M, Hartleben B et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 2003; 12: 3397-3405.
10. Nishibori Y, Liu L, Hosoyamada M et al. Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney Int 2004; 66: 1755-1765.
11. Huber TB, Schermer B, Muller RU et al. Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels. Proc Natl Acad Sci USA 2006; 103: 17079-17086.
12. Roselli S, Heidet L, Sich M et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol 2004; 24: 550-560.
13. Leneuve P, Colnot S, Hamard G et al. Cre-mediated germline mosaicism: a new transgenic mouse for the selective removal of residual markers from tri-lox conditional alleles. Nucleic Acids Res 2003; 31: e21.
14. Zhang SY, Marlier A, Gribouval O et al. In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Kidney Int 2004; 66: 945-954.
15. McKenzie LM, Hendrickson SL, Briggs WA et al. NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol 2007; 18: 2987-2995.
16. Egan ME, Pearson M, Weiner SA et al. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 2004; 304: 600-602.
17. Liu XL, Done SC, Yan K et al. Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. J Am Soc Nephrol 2004; 15: 1731-1738.
18. Ellgaard L, Helenius A. Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 2003; 4: 181-191.
19. Eremina V, Cui S, Gerber H et al. Vascular endothelial growth factor a signaling in the podocyte-endothelial compartment is required for mesangial cell migration and survival. J Am Soc Nephrol 2006; 17: 724-735.
20. Fan Q, Xing Y, Ding J et al. The relationship among nephrin, podocin, CD2AP, and alpha-actinin might not be a true 'interaction' in podocyte. Kidney Int 2006; 69: 1207-1215.
21. Rohr C, Prestel J, Heidet L et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002; 109: 1073-1082.
22. Liu G, Clement LC, Kanwar YS et al. ZHX proteins regulate podocyte gene expression during the development of nephrotic syndrome. J Biol Chem 2006; 281: 39681-39692.
23. Barnes JL, Mitchell RJ, Torres ES. Expression of plasminogen activator-inhibitor-1 (PAI-1) during cellular remodeling in proliferative glomerulonephritis in the rat. J Histochem Cytochem 1995; 43: 895-905.
24. Yang Y, Zhang SY, Sich M et al. Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. Pediatr Nephrol 2001; 16: 429-438.
25. Eddy AA, Fogo AB. Plasminogen activator inhibitor-1 in chronic kidney disease: evidence and mechanisms of action. J Am Soc Nephrol 2006; 17: 2999-3012.
26. Schiffer M, von Gersdorff G, Bitzer M et al. Smad proteins and transforming growth factor-beta signaling. Kidney Int Suppl 2000; 77: S45-S52.
27. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-delta delta C(T)) method. Methods 2001; 25: 402-408.
28. Roselli S, Gribouval O, Boute N et al. Podocin localizes in the kidney to the slit diaphragm area. Am J Pathol 2002; 160: 131-139.