The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight

Gene

Volumn 527, Issue 1, 2013, Pages 65-70

  Jelinek, David ^a   Castillo, Joseph J ^a   Garver, William S ^a  

^a UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

Adiposity; Cholesterol; Free fatty acids; Niemann Pick C1; Obesity; Type 2 diabetes

Indexed keywords

ALANINE AMINOTRANSFERASE; FATTY ACID; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; STEROL REGULATORY ELEMENT BINDING PROTEIN 1;

ADIPOSE TISSUE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANIMAL MODEL; ARTICLE; BODY WEIGHT; CLINICAL FEATURE; DOWN REGULATION; FATTY ACID METABOLISM; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION; IMPAIRED GLUCOSE TOLERANCE; INSULIN RESISTANCE; LIPOTOXICITY; LIVER; LIVER TOXICITY; LOW FAT DIET; MALE; MOUSE; MUSCLE; NIEMANN PICK DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PRIORITY JOURNAL;

ADIPOSITY; ALANINE AMINOTRANSFERASE; ALT; ASPARTATE AMINOTRANSFERASE; AST; CHOLESTEROL; FREE FATTY ACIDS; GENOME-WIDE ASSOCIATION STUDY; GWAS; HOMA-Β%; HOMA-IR; HOMEOSTASIS MODEL ASSESSMENT-Β CELL FUNCTION PERCENTILE; HOMEOSTASIS MODEL ASSESSMENT-INSULIN RESISTANCE INDEX; INSIG; INSULIN-INDUCED GENE; INTRAPERITONEAL GLUCOSE TOLERANCE TEST; INTRAPERITONEAL INSULIN TOLERANCE TEST; IPGTT; IPITT; LIVER X RECEPTOR Α; LXRΑ; NIEMANN-PICK C1; NPC1; OBESITY; PCR; PEROXISOME-PROLIFERATOR ACTIVATED RECEPTOR Α; POLYMERASE CHAIN REACTION; PPARΑ; QUANTITATIVE INSULIN SENSITIVITY CHECK INDEX; QUICKIE; SCAP; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SREBP; SREBP CLEAVAGE ACTIVATING PROTEIN; STEROL REGULATORY ELEMENT-BINDING PROTEIN; TYPE 2 DIABETES;

ADIPOSE TISSUE, WHITE; ANIMALS; BLOOD GLUCOSE; BODY WEIGHT; DIABETES MELLITUS, TYPE 2; DISEASE MODELS, ANIMAL; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GLUCOSE INTOLERANCE; GLUCOSE TOLERANCE TEST; HUMANS; LIVER; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, TRANSGENIC; MUSCLE, SKELETAL; ORGAN SIZE; ORPHAN NUCLEAR RECEPTORS; PPAR ALPHA; PROTEINS; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; STEROL REGULATORY ELEMENT BINDING PROTEIN 2;

MUS;

EID: 84881218279     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.05.080     Document Type: Article

References (32)

1. Al-Daghri N.M., et al. Mammalian NPC1 genes undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC Med. 2012, 10:140.
2. Amemiya-Kudo M., et al. Promoter analysis of the mouse sterol regulatory element-binding protein-1c gene. J. Biol. Chem. 2000, 275:31078-31085.
3. Chen F.W., Gordon R.E., Ioannou Y.A. NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein. Biochem. J. 2005, 390:549-561.
4. Cotsapas C., et al. Common body mass index-associated variants confer risk of extreme obesity. Hum. Mol. Genet. 2010, 19:3690-3691.
5. den Hoed M., et al. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples. Int. J. Obes. 2012, 34:1-6.
6. Garver W.S., et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am. J. Med. Genet. 2007, 143A:1204-1211.
7. Garver W.S., et al. Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse. J. Cell. Biochem. 2007, 101:498-516.
8. Garver W.S., et al. The National Niemann-Pick Type C1 disease database: correlation of lipid profiles, mutations, and biochemical phenotypes. J. Lipid Res. 2010, 51:406-415.
9. Jelinek D., Heidenreich R.A., Erickson R.P., Garver W.S. Decreased Npc1 gene dosage in mice is associated with weight gain. Obesity 2010, 18:1457-1459.
10. Jelinek D., Millward V., Birdi A., Trouard T.P., Heidenreich R.A., Garver W.S. Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance. Hum. Mol. Genet. 2010, 20:312-321.
11. Jelinek D., Castillo J.J., Richardson L.M., Luo L., Heidenreich R.A., Garver W.S. The Niemann-Pick C1 gene is downregulated in livers of C57BL/6J mice by dietary fatty acids, but not dietary cholesterol, through feedback inhibition of the SREBP pathway. J. Nutr. 2012, 142:1935-1942.
12. Katz A., et al. Quantitative insulin sensitivity check index: a simple, accurate method for assessing insulin sensitivity in humans. J. Clin. Endocrinol. Metab. 2000, 85:2402-2410.
13. Lam T.K.T., Carpentier A., Lewis G.F., van de Werve G., Fantus I.G., Giacca A. Mechanisms of the free fatty acid-induced increase in hepatic glucose production. Am. J. Physiol. Endocrinol. Metab. 2003, 284:E863-E873.
14. Larter C.Z., et al. Hepatic free fatty acids accumulate in experimental steatohepatitis: role of adaptive pathways. J. Hepatol. 2008, 48:638-647.
15. Lee J.N., Kim H., Yao H., Chen Y., Weng K., Ye J. Identification of Ubxd8 protein as a sensor for unsaturated fatty acids and regulator of triglyceride synthesis. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:21424-21429.
16. Liscum L., Ruggiero R.M., Faust J.R. The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. J. Cell Biol. 1989, 108:1625-1636.
17. Loftus S.K., et al. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 1997, 277:232-235.
18. Matthews D.R., Hosker J.P., Rudenski A.S., Naylor B.A., Treacher D.F., Turner R.C. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985, 28:412-419.
19. Meyre D., et al. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat. Genet. 2009, 41:157-159.
20. Nishikawa S., Yasoshima A., Doi K., Nakagawa H., Uetsuka K. Involvement of sex, strain and age factors in high fat diet-induced obesity in C57BL/6J and BALB/cA mice. Exp. Anim. 2007, 56:263-272.
21. Nishikawa S., Sugimoto J., Okada M., Sakairi T., Takagi S. Gene expression in livers of BALB/c and C57BL/6J mice fed a high-fat diet. Toxicol. Pathol. 2012, 40:71-82.
22. Ou J., et al. Unsaturated fatty acids inhibit transcription of the sterol regulatory element-binding protein-1c (SREBP-1c) gene by antagonizing ligand-dependent activation of LXR. Proc. Natl. Acad. Sci. U.S.A. 2001, 98:6027-6032.
23. Pentchev P.G., Boothe A.D., Kruth H.S., Weintroub H., Stivers J., Brady R.O. A genetic storage disorder in BALB/c mice with a metabolic block in esterification of exogenous cholesterol. J. Biol. Chem. 1984, 259:5784-5791.
24. Pentchev P.G., et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc. Natl. Acad. Sci. U.S.A. 1985, 82:8247-8251.
25. Pentchev P.G., Comly M.E., Kruth H.S., Patel S., Proestel M., Weintroub H. The cholesterol storage disorder of the mutant BALB/c mouse: a primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J. Biol. Chem. 1986, 261:2772-2777.
26. Rakhshandehroo M., Knoch B., Muller M., Kersten S. Peroxisome proliferator-activated receptor alpha target genes. PPAR Res. 2010, 2010:612089.
27. Scullion P., Edwards D., McKinnon H., Miller S., Watson D., MacIntyre L. Analysis of changes in triacylglycerol ratios in mouse liver and plasma in response to a liver X receptor agonist. Metabolomics 2012, 8:74-85.
28. Shimomura I., Bashmakov Y., Shimano H., Horton J.D., Goldstein J.L., Brown M.S. Cholesterol feeding reduces nuclear forms of sterol regulatory element-binding proteins in hamster liver. Proc. Natl. Acad. Sci. U.S.A. 1997, 94:12354-12359.
29. Takeuchi Y., et al. Polyunsaturated fatty acids selectively suppress sterol regulatory element-binding protein-1 through proteolytic processing and autoloop regulatory circuit. J. Biol. Chem. 2010, 2010:11681-11691.
30. Xie C., Turley S.D., Dietschy J.M. Cholesterol accumulation in tissues of the Niemann-Pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ. Proc. Natl. Acad. Sci. U.S.A. 1999, 96:11992-11997.
31. Xie C., Turley S.D., Pentchev P.G., Dietschy J.M. Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein. Am. J. Physiol. 1999, 276:E336-E344.
32. Yoshikawa T., et al. Polyunsaturated fatty acids suppress sterol regulatory element-binding protein 1c promoter activity by inhibition of liver X receptor (LXR) binding to LXR response elements. J. Biol. Chem. 2002, 277:1706-1711.