A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice

Lipids in Health and Disease

Volumn 13, Issue 1, 2014, Pages

  Helmering, Joan ^a   Juan, Todd ^a   Li, Chi Ming ^a   Chhoa, Mark ^a   Baron, Will ^a   Gyuris, Tibor ^a   Richards, William G ^a   Turk, James R ^a   Lawrence, Jeff ^a   Cosgrove, Patrick A ^a   Busby, Jim ^a   Kim, Ki Won ^a   Kaufman, Stephen A ^a   Cummings, Connie ^b   Carlson, George ^c   Véniant, Murielle M ^a   Lloyd, David J ^a  

^a AMGEN INC   (United States)

^b UltraPath Imaging   (United States)

^c MCLAUGHLIN RESEARCH INSTITUTE   (United States)

Author keywords

AMP deaminase; B6; C3; ENU; HDL; LDL; Proteinuria

Indexed keywords

ADENOSINE PHOSPHATE; CAMPESTEROL; CHOLESTEROL 7ALPHA MONOOXYGENASE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; LOW DENSITY LIPOPROTEIN RECEPTOR; SITOSTEROL; ADENOSINE MONOPHOSPHATE DEAMINASE; AMPD2 PROTEIN, MOUSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

AMPD2 GENE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CYP7A1 GENE; DNA SEQUENCE; ELECTRON MICROSCOPY; GENE; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE GENE; HYPERCHOLESTEROLEMIA; INSIG1 GENE; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; METABOLOMICS; MOUSE; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; NONHUMAN; PROTEINURIA; WESTERN BLOTTING; WILD TYPE; ANIMAL; BLOOD; C57BL MOUSE; GENE EXPRESSION; GENETICS; GLOMERULUS; MISSENSE MUTATION; PATHOLOGY;

AMP DEAMINASE; ANIMALS; CHOLESTEROL, HDL; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HYPERCHOLESTEROLEMIA; KIDNEY GLOMERULUS; MICE, INBRED C57BL; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PROTEINURIA;

EID: 84920829391     PISSN: None     EISSN: 1476511X     Source Type: Journal    
DOI: 10.1186/1476-511X-13-167     Document Type: Article

References (31)

1. Rader DJ, Cohen J, Hobbs HH: Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003, 111: 1795-1803. 10.1172/JCI200318925
2. Ishibashi S, Brown MS, Goldstein JL, Gerard RD, Hammer RE, Herz J: Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest. 1993, 92: 883-893. 10.1172/JCI116663
3. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003, 34: 154-156. 10.1038/ng1161
4. Tybjaerg-Hansen A, Steffensen R, Meinertz H, Schnohr P, Nordestgaard BG: Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med. 1998, 338: 1577-1584. 10.1056/NEJM199805283382203
5. Soutar AK, Naoumova RP: Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2007, 4: 214-225. 10.1038/ncpcardio0836
6. Leduc MS, Lyons M, Darvishi K, Walsh K, Sheehan S, Amend S, Cox A, Orho-Melander M, Kathiresan S, Paigen B, Korstanje R: The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol. J Lipid Res. 2011, 52: 1139-1149. 10.1194/jlr.M009175
7. Mohr M, Klempt M, Rathkolb B, de Angelis MH, Wolf E, Aigner B: Hypercholesterolemia in ENU-induced mouse mutants. J Lipid Res. 2004, 45: 2132-2137. 10.1194/jlr.M400236-JLR200
8. Aljakna A, Choi S, Savage H, Hageman Blair R, Gu T, Svenson KL, Churchill GA, Hibbs M, Korstanje R: Pla2g12b and Hpn are genes identified by mouse ENU mutagenesis that affect HDL cholesterol. PLoS One. 2012, 7: e43139- 10.1371/journal.pone.0043139
9. Pitman JL, Bonnet DJ, Curtiss LK, Gekakis N: Reduced cholesterol and triglycerides in mice with a mutation in Mia2, a liver protein that localizes to ER exit sites. J Lipid Res. 2011, 52: 1775-1786. 10.1194/jlr.M017277
10. Salinger AP, Justice MJ: Mouse mutagenesis using N-Ethyl-N-Nitrosourea (ENU). CSH Protoc. 2008, 2008: pdb prot4985-
11. Juan T, Véniant MM, Helmering J, Babij P, Baker DM, Damore MA, Bass MB, Gyuris T, Chhoa M, Li CM, Ebeling C, Amato J, Carlson GA, Lloyd DJ: Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice. J Lipid Res. 2009, 50: 534-545.
12. Szydlowska M, Roszkowska A: Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). Mol Cell Biochem. 2008, 318: 1-5. 10.1007/s11010-008-9773-x
13. Gross M: Molecular biology of AMP deaminase deficiency. Pharm World Sci. 1994, 16: 55-61. 10.1007/BF01880656
14. Toyama K, Morisaki H, Cheng J, Kawachi H, Shimizu F, Ikawa M, Okabe M, Morisaki T: Proteinuria in AMPD2-deficient mice. Genes Cells. 2012, 17: 28-38. 10.1111/j.1365-2443.2011.01568.x
15. Spiers AS: Deoxycoformycin (pentostatin): clinical pharmacology, role in the chemotherapy of cancer, and use in other diseases. Haematologia (Budap). 1996, 27: 55-84.
16. Su Z, Li Y, James JC, McDuffie M, Matsumoto AH, Helm GA, Weber JL, Lusis AJ, Shi W: Quantitative trait locus analysis of atherosclerosis in an intercross between C57BL/6 and C3H mice carrying the mutant apolipoprotein E gene. Genetics. 2006, 172: 1799-1807.
17. Gibala MJ, MacLean DA, Graham TE, Saltin B: Anaplerotic processes in human skeletal muscle during brief dynamic exercise. J Physiol. 1997, 502 (Pt 3): 703-713.
18. Gibala MJ, Gonzalez-Alonso J, Saltin B: Dissociation between muscle tricarboxylic acid cycle pool size and aerobic energy provision during prolonged exercise in humans. J Physiol. 2002, 545: 705-713. 10.1113/jphysiol.2002.028084
19. Saint-Marc C, Pinson B, Coulpier F, Jourdren L, Lisova O, Daignan-Fornier B: Phenotypic consequences of purine nucleotide imbalance in Saccharomyces cerevisiae. Genetics. 2009, 183: 529-538. 521SI-527SI, 10.1534/genetics.109.105858
20. Yang TT, Chiu NH, Chung HH, Hsu CT, Lee WJ, Cheng JT: Stimulatory effect of allantoin on imidazoline I (1) receptors in animal and cell line. Horm Metab Res. 2012, 44: 879-884.
21. Trevisan R, Dodesini AR, Lepore G: Lipids and renal disease. J Am Soc Nephrol. 2006, 17: S145-S147. 10.1681/ASN.2005121320
22. Vaziri ND: Molecular mechanisms of lipid disorders in nephrotic syndrome. Kidney Int. 2003, 63: 1964-1976. 10.1046/j.1523-1755.2003.00941.x
23. Liang KH, Oveisi F, Vaziri ND: Gene expression of hepatic cholesterol 7 alpha-hydroxylase in the course of puromycin-induced nephrosis. Kidney Int. 1996, 49: 855-860. 10.1038/ki.1996.118
24. Zhou Y, Zhang X, Chen L, Wu J, Dang H, Wei M, Fan Y, Zhang Y, Zhu Y, Wang N, Breyer MD, Guan Y: Expression profiling of hepatic genes associated with lipid metabolism in nephrotic rats. Am J Physiol Renal Physiol. 2008, 295: F662-F671. 10.1152/ajprenal.00046.2008
25. Han S, Vaziri ND, Gollapudi P, Kwok V, Moradi H: Hepatic fatty acid and cholesterol metabolism in nephrotic syndrome. Am J Transl Res. 2013, 5: 246-253.
26. Wang L, Shearer GC, Budamagunta MS, Voss JC, Molfino A, Kaysen GA: Proteinuria decreases tissue lipoprotein receptor levels resulting in altered lipoprotein structure and increasing lipid levels. Kidney Int. 2012, 82: 990-999. 10.1038/ki.2012.244
27. Shearer GC, Newman JW, Hammock BD, Kaysen GA: Graded effects of proteinuria on HDL structure in nephrotic rats. J Am Soc Nephrol. 2005, 16: 1309-1319. 10.1681/ASN.2004080644
28. Liu S, Vaziri ND: Role of PCSK9 and IDOL in the pathogenesis of acquired LDL receptor deficiency and hypercholesterolemia in nephrotic syndrome. Nephrol Dial Transplant. 2014, 29: 538-543. 10.1093/ndt/gft439
29. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG: AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013, 154: 505-517. 10.1016/j.cell.2013.07.005
30. Garber DW, Kulkarni KR, Anantharamaiah GM: A sensitive and convenient method for lipoprotein profile analysis of individual mouse plasma samples. J Lipid Res. 2000, 41: 1020-1026.
31. Phillips CL, Pfeiffer BJ, Luger AM, Franklin CL: Novel collagen glomerulopathy in a homotrimeric type I collagen mouse (oim). Kidney Int. 2002, 62: 383-391. 10.1046/j.1523-1755.2002.00451.x