Pathology of congenital generalized lipodystrophy in AGPAT2-/- mice

Veterinary Pathology

Volumn 48, Issue 3, 2011, Pages 642-654

  Vogel, Peter ^a   Read, R ^a   Hansen, G ^a   Wingert, J ^a   DaCosta, C M ^a   Buhring, L M ^a   Shadoan, M ^a  

^a LEXICON PHARMACEUTICALS INC   (United States)

Author keywords

adipocyte; adipose; brown adipose tissue; congenital generalized lipodystrophy; knockout mouse; necrosis

Indexed keywords

1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; INSULIN;

AGING; ANIMAL; ARTICLE; GENETICS; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE TEST; HEPATOMEGALY; LIPID METABOLISM; LIPODYSTROPHY; METABOLISM; MOUSE; MOUSE MUTANT; PATHOLOGY;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; AGING; ANIMALS; BLOOD GLUCOSE; GLUCOSE TOLERANCE TEST; HEPATOMEGALY; INSULIN; LIPID METABOLISM; LIPODYSTROPHY; MICE; MICE, KNOCKOUT;

MUS; PIERIS RAPAE;

EID: 79955869569     PISSN: 03009858     EISSN: 15442217     Source Type: Journal    
DOI: 10.1177/0300985810383870     Document Type: Article

References (56)

1. Abuin A,Hansen GM,Zambrowicz B. Gene trap mutagenesis. Handb Exp Pharmacol. 2007;178: 129-147.
2. Agarwal AK,Arioglu E,De Almeida S,Akkoc N,Taylor SI,Bowcock AM,Barnes RI,Garg A. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31: 21-23.
3. Agarwal AK,Barnes RI,Garg A. Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity. Arch Biochem Biophys. 2006;449: 64-76.
4. Agarwal AK,Garg A. Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab. 2003;14: 214-221.
5. Agarwal AK,Sukumaran S,Bartz R,Barnes RI,Garg A. Functional characterization of human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 9: cloning, tissue distribution, gene structure, and enzymatic activity. J Endocrinol. 2007;193: 445-457.
6. Asterholm IW,Halberg N,Scherer PE. Mouse models of lipodystrophy key reagents for the understanding of the metabolic syndrome. Drug Discov Today Dis Models. 2007;4: 17-24.
7. Buteau J,El-Assaad W,Rhodes CJ,Rosenberg L,Joly E,Prentki M. Glucagon-like peptide-1 prevents beta cell glucolipotoxicity. Diabetologia. 2004;47: 806-815.
8. Cannon B,Nedergaard J. Brown adipose tissue: function and physiological significance. Physiol Rev. 2004;84: 277-359.
9. Chandalia M,Garg A,Vuitch F,Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 1995;80: 3077-3081.
10. Cortes VA,Curtis DE,Sukumaran S,Shao X,Parameswara V,Rashid S,Smith AR,Ren J,Esser V,Hammer RE,Agarwal AK,Horton JD,Garg A. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metab. 2009;9: 165-176.
11. Del Zotto H,Gomez Dumm CL,Drago S,Fortino A,Luna GC,Gagliardino JJ. Mechanisms involved in the beta-cell mass increase induced by chronic sucrose feeding to normal rats. J Endocrinol. 2002;174: 225-231.
12. Edvell A,Lindstrom P. Development of insulin secretory function in young obese hyperglycemic mice (Umea ob/ob). Metabolism. 1995;44: 906-913.
13. Edvell A,Lindstrom P. Initiation of increased pancreatic islet growth in young normoglycemic mice (Umea +/?). Endocrinology. 1999;140: 778-783.
14. El-Assaad W,Buteau J,Peyot ML,Nolan C,Roduit R,Hardy S,Joly E,Dbaibo G,Rosenberg L,Prentki M. Saturated fatty acids synergize with elevated glucose to cause pancreatic beta-cell death. Endocrinology. 2003;144: 4154-4163.
15. Gale SE,Frolov A,Han X,Bickel PE,Cao L,Bowcock A,Schaffer JE,Ory DS. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem. 2006;281: 11082-11089.
16. Gapp DA,Leiter EH,Coleman DL,Schwizer RW. Temporal changes in pancreatic islet composition in C57BL/6J-db/db (diabetes) mice. Diabetologia. 1983;25: 439-443.
17. Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350: 1220-1234.
18. Garg A. Adipose tissue dysfunction in obesity and lipodystrophy. Clin Cornerstone. 2006;8 (suppl 4): S7-S13.
19. Garg A,Fleckenstein JL,Peshock RM,Grundy SM. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. J Clin Endocrinol Metab. 1992;75: 358-361.
20. Gomes KB,Fernandes AP,Ferreira AC,Pardini H,Garg A,Magre J,Pardini VC. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab. 2004;89: 357-361.
21. Halaas JL,Gajiwala KS,Maffei M,Cohen SL,Chait BT,Rabinowitz D,Lallone RL,Burley SK,Friedman JM. Weight-reducing effects of the plasma protein encoded by the obese gene. Science. 1995;269: 543-546.
22. Hansen GM,Markesich DC,Burnett MB,Zhu Q,Dionne KM,Richter LJ,Finnell RH,Sands AT,Zambrowicz BP,Abuin A. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. 2008;18: 1670-1679.
23. Haque WA,Shimomura I,Matsuzawa Y,Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab. 2002;87: 2395.
24. Islam MS,Morton NM,Hansson A,Emilsson V. Rat insulinoma-derived pancreatic beta-cells express a functional leptin receptor that mediates a proliferative response. Biochem Biophys Res Commun. 1997;238: 851-855.
25. Javor ED,Cochran EK,Musso C,Young JR,Depaoli AM,Gorden P. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes. 2005;54: 1994-2002.
26. Kaiser N,Leibowitz G,Nesher R. Glucotoxicity and beta-cell failure in type 2 diabetes mellitus. J Pediatr Endocrinol Metab. 2003;16: 5-22.
27. Kharroubi I,Ladriere L,Cardozo AK,Dogusan Z,Cnop M,Eizirik DL. Free fatty acids and cytokines induce pancreatic beta-cell apoptosis by different mechanisms: role of nuclear factor-kappaB and endoplasmic reticulum stress. Endocrinology. 2004;145: 5087-5096.
28. Kulkarni RN,Wang ZL,Wang RM,Hurley JD,Smith DM,Ghatei MA,Withers DJ,Gardiner JV,Bailey CJ,Bloom SR. Leptin rapidly suppresses insulin release from insulinoma cells, rat and human islets and, in vivo, in mice. J Clin Invest. 1997;100: 2729-2736.
29. Larsson LI,Boder GB,Shaw WN. Changes in the islets of langerhans in the obese Zucker rat. Lab Invest. 1977;36: 593-598.
30. Leung DW. The structure and functions of human lysophosphatidic acid acyltransferases. Front Biosci. 2001;6: D944-D953.
31. Lombardo YB,Drago S,Chicco A,Fainstein-Day P,Gutman R,Gagliardino JJ,Gomez Dumm CL. Long-term administration of a sucrose-rich diet to normal rats: relationship between metabolic and hormonal profiles and morphological changes in the endocrine pancreas. Metabolism. 1996;45: 1527-1532.
32. Lu B,Jiang YJ,Zhou Y,Xu FY,Hatch GM,Choy PC. Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPARalpha in murine heart. Biochem J. 2005;385: 469-477.
33. Maedler K. Beta cells in type 2 diabetes: a crucial contribution to pathogenesis. Diabetes Obes Metab. 2008;10: 408-420.
34. Maedler K,Schulthess FT,Bielman C,Berney T,Bonny C,Prentki M,Donath MY,Roduit R. Glucose and leptin induce apoptosis in human beta-cells and impair glucose-stimulated insulin secretion through activation of c-Jun N-terminal kinases. FASEB J. 2008;22: 1905-1913.
35. Magre J,Delepine M,Khallouf E,Gedde-Dahl T,Van Maldergem L,Sobel E,Papp J,Meier M,Megarbane A,Bachy A,Verloes A,d'Abronzo FH,Seemanova E,Assan R,Baudic N,Bourut C,Czernichow P,Huet F,Grigorescu F,de erdanet, M,Lacombe D,Labrune P,Lanza M,Loret H,Matsuda F,Navarro J,Nivelon-Chevalier A,Polak M,Robert JJ,Tric P,Tubiana-Rufi N,Vigouroux C,Weissenbach J,Savasta S,Maassen JA,Trygstad O,Bogalho P,Freitas P,Medina JL,Bonnicci F,Joffe BI,Loyson G,Panz VR,Raal FJ,O'Rahilly S,Stephenson T,Kahn CR,Lathrop M,Capeau J. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28: 365-370.
36. Magre J,Delepine M,Van Maldergem L,Robert JJ,Maassen JA,Meier M,Panz VR,Kim CA,Tubiana-Rufi N,Czernichow P,Seemanova E,Buchanan CR,Lacombe D,Vigouroux C,Lascols O,Kahn CR,Capeau J,Lathrop M. Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes. 2003;52: 1573-1578.
37. Matarese G,Sanna V,Lechler RI,Sarvetnick N,Fontana S,Zappacosta S,La Cava A. Leptin accelerates autoimmune diabetes in female NOD mice. Diabetes. 2002;51: 1356-1361.
38. Matthews DR,Hosker JP,Rudenski AS,Naylor BA,Treacher DF,Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia. 1985;28: 412-419.
39. Mohamed-Ali V,Pinkney JH,Coppack SW. Adipose tissue as an endocrine and paracrine organ. Int J Obes Relat Metab Disord. 1998;22: 1145-1158.
40. Moitra J,Mason MM,Olive M,Krylov D,Gavrilova O,Marcus-Samuels B,Feigenbaum L,Lee E,Aoyama T,Eckhaus M,Reitman ML,Vinson C. Life without white fat: a transgenic mouse. Genes Dev. 1998;12: 3168-3181.
41. Pattaranit R,van den Berg HA,Spanswick D. The development of insulin resistance in type 2 diabetes: insights from knockout studies. Sci Prog. 2008;91: 285-316.
42. Pick A,Clark J,Kubstrup C,Levisetti M,Pugh W,Bonner-Weir S,Polonsky KS. Role of apoptosis in failure of beta-cell mass compensation for insulin resistance and beta-cell defects in the male Zucker diabetic fatty rat. Diabetes. 1998;47: 358-364.
43. Poitout V,Robertson RP. Glucolipotoxicity: fuel excess and beta-cell dysfunction. Endocr Rev. 2008;29: 351-366.
44. Seale P,Bjork B,Yang W,Kajimura S,Chin S,Kuang S,Scime A,Devarakonda S,Conroe HM,Erdjument-Bromage H,Tempst P,Rudnicki MA,Beier DR,Spiegelman BM. PRDM16 controls a brown fat/skeletal muscle switch. Nature. 2008;454: 961-967.
45. Seip M,Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413: 2-28.
46. Shimomura I,Hammer RE,Richardson JA,Ikemoto S,Bashmakov Y,Goldstein JL,Brown MS. Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev. 1998;12: 3182-3194.
47. Simha V,Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab. 2003;88: 5433-5437.
48. Sukumaran S,Barnes RI,Garg A,Agarwal AK. Functional characterization of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 10/glycerol-3-phosphate acyltransferase isoform 3. J Mol Endocrinol. 2009;42: 469-478.
49. Terauchi Y,Takamoto I,Kubota N,Matsui J,Suzuki R,Komeda K,Hara A,Toyoda Y,Miwa I,Aizawa S,Tsutsumi S,Tsubamoto Y,Hashimoto S,Eto K,Nakamura A,Noda M,Tobe K,Aburatani H,Nagai R,Kadowaki T. Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance. J Clin Invest. 2007;117: 246-257.
50. Terpstra AH. Effect of conjugated linoleic acid on body composition and plasma lipids in humans: an overview of the literature. Am J Clin Nutr. 2004;79: 352-361.
51. Tsuboyama-Kasaoka N,Takahashi M,Tanemura K,Kim HJ,Tange T,Okuyama H,Kasai M,Ikemoto S,Ezaki O. Conjugated linoleic acid supplementation reduces adipose tissue by apoptosis and develops lipodystrophy in mice. Diabetes. 2000;49: 1534-1542.
52. van Herpen NA,Schrauwen-Hinderling VB. Lipid accumulation in non-adipose tissue and lipotoxicity. Physiol Behav. 2008;94: 231-241.
53. Van Maldergem L,Magre J,Khallouf TE,Gedde-Dahl T,Delepine M,Trygstad O,Seemanova E,Stephenson T,Albott CS,Bonnici F,Panz VR,Medina JL,Bogalho P,Huet F,Savasta S,Verloes A,Robert JJ,Loret H,De Kerdanet M,Tubiana-Rufi N,Megarbane A,Maassen J,Polak M,Lacombe D,Kahn CR,Silveira EL,D'Abronzo FH,Grigorescu F,Lathrop M,Capeau J,O'Rahilly S. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet. 2002;39: 722-733.
54. Xue B,Rim JS,Hogan JC,Coulter AA,Koza RA,Kozak LP. Genetic variability affects the development of brown adipocytes in white fat but not in interscapular brown fat. J Lipid Res. 2007;48: 41-51.
55. Zambrowicz BP,Abuin A,Ramirez-Solis R,Richter LJ,Piggott J,Beltrandel Rio H,Buxton EC,Edwards J,Finch RA,Friddle CJ,Gupta A,Hansen G,Hu Y,Huang W,Jaing C,Key BW,Kipp P,Kohlhauff B,Ma ZQ,Markesich D,Payne R,Potter DG,Qian N,Shaw J,Schrick J,Shi ZZ,Sparks MJ,Van Sligtenhorst I,Vogel P,Walke W,Xu N,Zhu Q,Person C,Sands AT. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003;100: 14109-14114.
56. Zheng B,Sage M,Cai WW,Thompson DM,Tavsanli BC,Cheah YC,Bradley A. Engineering a mouse balancer chromosome. Nat Genet. 1999;22: 375-378.