Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2−/−) mice

Molecular Genetics and Metabolism - Tập 92 - Trang 315-324 - 2007
Prem S. Shekhawat1,2, Sonne R. Srinivas1, Dietrich Matern3, Michael J. Bennett4, Richard Boriack5, Varghese George6, Hongyan Xu6, Puttur D. Prasad2, Penny Roon7, Vadivel Ganapathy2
1Department of Pediatrics, BIW 6033, 1120 15th Street, Medical College of Georgia, Augusta, GA 30912, United States
2Department of Biochemistry & Molecular Biology, Medical College of Georgia, Augusta, GA 30912, United States
3Departments of Laboratory Medicine and Pathology, Medical Genetics and Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, United States
4Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, United States
5Metabolic Diseases Laboratory, Children’s Medical Center of Dallas, Dallas, TX 75235, United States
6Department of Biostatistics, Medical College of Georgia, Augusta, GA 30912, United States
7Department of Cellular Biology & Anatomy, Medical College of Georgia, Augusta, GA 30912, United States

Tài liệu tham khảo

Rinaldo, 2002, Fatty acid oxidation disorders, Ann. Rev. Physiol., 64, 477, 10.1146/annurev.physiol.64.082201.154705 Shekhawat, 2003, Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases, Am. J. Physiol., 284, E1098 Wang, 1999, Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency, Proc. Natl. Acad. Sci. USA, 96, 2356, 10.1073/pnas.96.5.2356 Spiekerkoetter, 2003, Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2, J. Inherit. Metab. Disease, 26, 613, 10.1023/A:1025968502527 Longo, 2006, Disorders of carnitine transport and the carnitine cycle, Am. J. Med. Genet., 142, 77, 10.1002/ajmg.c.30087 Peltekova, 2004, Functional variants of OCTN cation transporter genes are associated with Crohn disease, Nat. Genet., 36, 471, 10.1038/ng1339 Silverberg, 2007, Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn’s disease, Eur. J. Hum. Genet., 15, 328, 10.1038/sj.ejhg.5201756 The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls, Nature 447 (2007) 661–678. Nezu, 1999, Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter, Nat. Genet., 21, 91, 10.1038/5030 Mamo, 2007, Quantitative evaluation and selection of reference genes in mouse oocytes and embryos cultured in vivo and in vitro, BMC Develop. Biol., 7, 14, 10.1186/1471-213X-7-14 Thakkinstian, 2005, A method for meta-analysis of molecular association studies, Stat. Med., 24, 1291, 10.1002/sim.2010 Altman, 2001 Rioux, 2001, Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease, Nat. Genet., 29, 223, 10.1038/ng1001-223 Newman, 2005, A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn’s disease, Gastroenterology, 128, 260, 10.1053/j.gastro.2004.11.056 Fisher, 2006, Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease, Hum. Mutat., 27, 778, 10.1002/humu.20358 Russell, 2006, Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease, Gut., 55, 1114, 10.1136/gut.2005.082107 Noble, 2005, The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn’s disease, Gastroenterology, 129, 1854, 10.1053/j.gastro.2005.09.025 Waller, 2006, Evidence for association of OCTN genes and IBD5 with ulcerative colitis, Gut., 55, 809, 10.1136/gut.2005.084574 Torok, 2005, Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn’s disease, Gut., 54, 1421, 10.1136/gut.2005.066340 Leung, 2006, Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn’s disease in a New Zealand Caucasian cohort, Immunol. Cell Biol., 84, 233, 10.1111/j.1440-1711.2006.01423.x Martinez, 2006, Association of the organic cation transporter OCTN genes with Crohn’s disease in the Spanish population, Eur. J. Hum. Genet., 14, 222, 10.1038/sj.ejhg.5201529 Palmieri, 2006, Variants of OCTN1-2 cation transporter genes are associated with both Crohn’s disease and ulcerative colitis, Aliment. Pharmacol. Ther., 23, 497, 10.1111/j.1365-2036.2006.02780.x Ferraris, 2006, Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study, Inflamm. Bowel. Dis., 12, 355, 10.1097/01.MIB.0000217338.23065.58 Vermeire, 2005, Association of organic cation transporter risk haplotype with perianal penetrating Crohn’s disease but not with susceptibility to IBD, Gastroenterology, 129, 1845, 10.1053/j.gastro.2005.10.006 Gazouli, 2005, Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn’s disease, World J. Gastroenterol., 11, 7525, 10.3748/wjg.v11.i47.7525 Torkvist, 2007, Contribution of the IBD5 locus to Crohn’s disease in the Swedish population, Scand. J. Gastroenterol., 42, 200, 10.1080/00365520600842278 Yamazaki, 2004, Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease, J. Hum. Genet., 49, 664, 10.1007/s10038-004-0204-x Tosa, 2006, Lack of association between IBD5 and Crohn’s disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease, Scand. J. Gastroenterol., 41, 48, 10.1080/00365520510023864 Bene, 2006, Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn’s disease, World J. Gastroenterol., 12, 5550, 10.3748/wjg.v12.i34.5550 Bene, 2006, Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis, World J. Gastroenterol., 12, 110, 10.3748/wjg.v12.i1.110 Demirkol, 1994, The variation of carnitine content in human blood cells during disease – a study in bacterial infection and inflammatory bowel disease, Eur. J. Pediatr., 153, 565, 10.1007/BF02190659 Roediger, 1990, Selective reduction of fatty acid oxidation in colonocytes: correlation with ulcerative colitis, Lipids, 25, 646, 10.1007/BF02536016 Roediger, 1986, Metabolic induction of experimental ulcerative colitis by inhibition of fatty acid oxidation, Br. J. Exp. Pathol., 67, 773 Gasbarrini, 2003, Effects of propionyl-l-carnitine topical irrigation in distal ulcerative colitis: a preliminary report, Hepatogastroenterology, 50, 1385 Johnson, 1992, l-carnitine for treatment of distal ulcerative colitis, Gastroenterology, 103, 1709, 10.1016/0016-5085(92)91215-P Johnson, 1993, l-carnitine for treatment of nonspecific proctosigmoiditis, Dis. Colon. Rectum., 36, 518, 10.1007/BF02050022 Wong, 2006, Colonic health: fermentation and short chain fatty acids, J. Clin. Gastroenterol., 40, 235, 10.1097/00004836-200603000-00015 Brown, 2003, The Orphan G protein-coupled receptors GPR41 and GPR43 are activated by propionate and other short chain carboxylic acids, J. Biol. Chem., 278, 11312, 10.1074/jbc.M211609200 Karaki, 2006, Short-chain fatty acid receptor, GPR43, is expressed by enteroendocrine cells and mucosal mast cells in rat intestine, Cell Tissue Res., 324, 353, 10.1007/s00441-005-0140-x Canani, 2004, Butyrate as an effective treatment of congenital chloride diarrhea, Gastroenterology, 127, 630, 10.1053/j.gastro.2004.03.071 Matthews, 1998, Na-K-2Cl cotransporter gene expression and function during enterocyte differentiation. Modulation of Cl- secretory capacity by butyrate, J. Clin. Invest., 101, 2072, 10.1172/JCI1042 Heimerl, 2006, Alterations in intestinal fatty acid metabolism in inflammatory bowel disease, Biochim. Biophys. Acta, 1762, 341, 10.1016/j.bbadis.2005.12.006 Famularo, 2004, Carnitines and its congeners: a metabolic pathway to the regulation of immune response and inflammation, Ann. N.Y. Acad. Sci., 1033, 132, 10.1196/annals.1320.012 Andrieu-Abadie, 1999, l-carnitine prevents doxorubicin-induced apoptosis of cardiac myocytes: role of inhibition of ceramide generation, Faseb J., 13, 1501, 10.1096/fasebj.13.12.1501 Amat di San Filippo, 2003, Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency, J. Biol. Chem., 278, 47776, 10.1074/jbc.M307911200 Amat di San Filippo, 2006, Pharmacological rescue of carnitine transport in primary carnitine deficiency, Hum. Mutat., 27, 513, 10.1002/humu.20314 Nakanishi, 2001, Na+- and Cl−-coupled active transport of carnitine by the amino acid transporter ATB(0,+) from mouse colon expressed in HRPE cells and Xenopus oocytes, J. physiol., 532, 297, 10.1111/j.1469-7793.2001.0297f.x Babusukumar, 2006, Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn’s disease, Am. J. Gastroenterol., 101, 1354, 10.1111/j.1572-0241.2006.00564.x