2005, Number s1
<< Back Next >>
Inv Salud 2005; 7 (s1)
Genetic Susceptibility to Cirrhosis
Parra RI, Martínez LE, Ruiz MB, Panduro CA
Language: Spanish
References: 54
Page: 48-54
PDF size: 260.83 Kb.
ABSTRACT
Obesity and diabetes are common our population and are frequently associated with nonalcoholic fatty liver disease (NAFLD), which includes nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH). Nonalcoholic fatty liver is usually considered bening, but nonalcoholic steatohepatitis is recognized as a precursor to more severe liver disease and sometimes evolves to cryptogenic cirrhosis or also known as liver disease of undefined etiology. Cryptogenic cirrhosis constitutes 3-30% of all cases of cirrhosis. It is typically diagnosed after an exhaustive evaluation including serologic diagnostic to exclude identifiable etiologies and usually after a liver biopsy. The major risk factors for cryptogenic cirrhosis are nonalcoholic steatohepatitis (NASH), obesity, diabetes and hyperlipidemia. Genetic factors could explain the progression of steatosis to cirrhosis. Polymorphisms in genes encoding cytokines, leptin, keratins, iron metabolism proteins, can explain susceptibility to the development of cirrhosis.
REFERENCES
Byron D, Minuk GY. Clinical hepatology: profile of an urban, hospitalbased practice. Hepatology, 1996;24:813-815.
Caldwell SH, Crespo DM. The spectrum expanded: cryptogenic cirrhosis and the natural history of non-alcoholic fatty liver disease. J Hepatol, 2004;40:578-584.
Marchesini G, Forlani G. NASH: From Liver Diseases to Metabolic Disorders and Back to Clinical Hepatology. Hepatology, 2002;35:497-499.
De Marco R, Locatelli F, Zoppini G, Verlato G, Bonora E, Muggeo M. Cause-specific mortality in type 2 diabetes. The Verona Diabetes Study. Diabetes Care, 1999;22:756-761.
Marceau P, Biron S, Hould FS, Marceau S, Simard S, Thung SN, Kral JG. Liver pathology and the metabolic syndrome X in severe obesity. J Clin Endocrinol Metab, 1999;84:1513-1517.
Chitturi S, Farell GC. Etiopathogenesis of nonalcoholic steatohepatitis. Semin Liver Dis, 2001;21:27-41.
Younossi ZM. Non-alcoholic fatty liver disease. Curr Gastroenterol Reports, 1999;1:57-61.
Bonkovski HL, Banner BF, Lambrecht RW, Rubin RB. Iron in liver diseases other than hemochromatosis. Semin Liver Dis, 1996;16:65-82.
Bonkovsky HL, Jawaid Q, Tortorelli K, Le Clair P, Cobb J, Lambrecht RW, Banner BF. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol, 1999;31:421-429.
George KD, Goldwurm S, MacDonald GA, Cowley LL, Walker NI, Ward PJ, Jazwinska EC. Increase hepatic iron concentrations in nonalcoholic nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology, 1998;114:311-318.
Mendler MH, Turlin B, Moirand R, Jouanolle AM, Sapy T, Guyader D, Le Gall JY, et al. Insulin resistance-associated hepatic iron overload. Gastroenterology, 1999;117:1155-1163.
Kwan T, Leber B, Ahuja S, Carter R, Gerstein H. Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene. Clin Invest Med, 1998;21:251-257.
Moczulski DK, Grzeszczak W, Gawlik B. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. Diabetes Care, 2001;24:1187-1191.
Fernandez-Real JM, Vendrell J, Baiget M, Gimferrer E, Ricart W. C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes. Diabetes Care, 1999;22:525-526.
Pagano G, Pacini G, Musso G, Gambino R, Mecca F, Depetris N, Cassader M, David E, Cavallo-Perin P, Rizzetto M. Nonalcoholic Steatohepatitis, Insulin Resistance, and Metabolic Syndrome: Further Evidence for an Etiologic Association. Hepatology, 2002;35:367-372.
Sanyal AJ, Campbell-Sargent C, Mirshahi F, Rizzo WB, Contos MJ, Sterling RK, Luketic VA, et al. Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology, 2001;120:1183-1192.
Bacon B, O’Neill R, Britton R. Hepatic mitochondrial energy production in rats with chronic iron overload. Gastroenterology, 1993;105:1134-1140.
Pietrangelo A, Gualsi R, Casalgrandi G, Geerts A, De Bleser P, Mantosi G, Ventura E. Enhanced hepatic collagen type I mRNA expression into fat-storing cells in a rodent model of hemochromatosis. Hepatology, 1994;19:714-721.
Wang Y, Kuropatwinski KK, White DW, Hawley RG, Tartaglia LA, Baumann H. Leptin receptor actino in hepatic cells. J Biol Chem, 1997;272:16216-16223.
Saxena NK, Ikeda K, Rockey DC, Friedman SL, Anania FA. Leptin in Hepatic Fibrosis: Evidence for Increased Collagen Production in Stellate Cells and Lean Littermates of ob/ob Mice. Hepatology, 2002;35:762-771.
James OF, Day CP. Nonalcoholic steatohepatitis (NASH): a disease of emerging identity and importance. J Hepatol, 1998;29:495-501.
Chandalia M, Garg A, Vuitch F, Nizzi F. Posmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab, 1995;80:3077-3081.
Kakuma T, Lee Y, Higa M, Wang ZM, Pali W, Shimomura I, Unger R. Leptin, troglitazone, and the expression of sterol regulatory element binding proteins in liver and pancreatic islets. Proc Natl Acad Sci, 2000;97:8536-8541.
Caldwell SH, Hespenheide EE, Redick JA, Iezzoni JC, Battle EH, Sheppard BL. A pilot study of a thiazolidinedione, troglitazone, in nonalcoholic steatohepatitis. Am J Gastroenterol, 2001;96:519-525.
Finkelstein JD. Methionine metabolism in mammals. J Nutr Biochem, 1990;1:228-236.
Refsum H, Ueland PM, Nygard O, Vollset SE. Homocysteine and cardiovascular disease. Annu Rev Medicine, 1998;49:31-62.
Arthur MJP. Collagenases and liver fibrosis. J Hepatol, 1995;22:43-48.
Varela-Moreiras G, Alonso-Aperte E, Rubio M, Gasso M, Deulofeu R, Alvarez L, Caballería J, Rodes J, Mato JM. Carbon tetrachloride-induced hepatic injury is associated with global DNA hypomethylation and homocysteinemia: effect of S-adenosylmethionine treatment. Hepatology, 1995;22:1310-1315.
Mato JM, Alvarez L, Ortiz P, Pajares MA. S-adenosylmethionine synthesis: molecular mechanisms and clinical implications. Pharmacol Ther, 1997;73:265-280.
Ku NO, Zhou X, Toivola DM, Omary MB. The cytoskeleton of digestive epithelia in health and disease. Am J Physiol, 1999;277:G1108-G1137.
Moll R, Franke WW, Schiller DL, Geiger B, Krepler R. The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell, 1982;31:11-24.
Ku NO, Gish R, Wright TL, Omary MB. Keratin 8 mutations in patients with cryptogenic liver disease. N Engl J Med, 2001;344:1580-1587.
Ku NO, Wright TL, Terrault NA, Gish R, Omary MB. Mutation of human keratin 18 in association with cryptogenic cirrhosis. J Clin Invest, 1997;99:19-23.
Ku NO, Michie S, Oshima RG, Omary MB. Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant. J Cell Biol, 1995;131:1303-1314.
Greenberg AS, Nordan RP, McIntosh J, Calvo JC, Scow RO, Jablons D. Interleukin-6 reduces lipoprotein lipase activity in adipose tissue of mice in vivo and in 3T3-L1 adipocytes: a possible role for interleukin-6 in cancer cachexia. Cancer Res, 1992;52:4113-4116.
Nonogaki K, Fuller GM, Fuentes NL, Moser AH, Staprans I, Grunfeld C. Interleukin-6 stimulates hepatic triglyceride secretion in rats. Endocrinology, 1995;136:2143-2149.
Stouthard JM, Romijn JA, Van der Poll T, et al. Endocrinologic and metabolic effects of interleukin-6 in humans. Am J Physiol, 1995;268:E813-E819.
Morin L, Schlaepfer IR, Eckel RH. Tumor necrosis factor-alpha eliminates binding of NF-Y and an octamer-binding protein to the lipoprotein lipase promoter in 3T3-L1 adipocytes. J Clin Invest, 1995;95:1684-1689.
Feingold KR, Grunfeld C. Role of cytokines in inducing hyperlipidemia. Diabetes, 1992;41(Suppl 2):97-101.
Starnes HR, Warren RS, Jeevanadem M et al. Tumour necrosis factor and the acute metabolic response to injury in man. J Clin Invest, 1988;82:1321-1325.
Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphisms in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci USA, 1997;94:3195-3199.
Day CP. Pathogenesis of steatohepatitis. Best practice and research. Clin Gastroenterol, 2002;16(5):663-678.
Crespo J, Cayon A, Fernandez Gil P, Hernandez Guerra M, Mayorga M, Dominguez Diez A, et al. Gene expression of tumor necrosis factor alpha and TNF-receptors, p55 and p75, in nonalcoholic steatohepatitis patients. Hepatology, 2001;34(6);1158-1163.
Tilg H, Diehl AM. Cytokines in alcoholic and nonalcoholic steatohepatitis. N Engl J Med, 2000;343(20):1467-1476.
Bedossa P, Paradis V. Transforming growth factor-beta (TGF-beta): a key-role in liver fibrogenesis. J Hepatol, 1995;22:37-42.
Blobe GC, Scieman NP, Lodis HF. Role of Transforming Growth Factor b in Human Disease. N Engl J Med, 2000;342:1350-1358.
Border NA, Noble NA, Mechanisms of disease: Transforming Growth Factor (beta) in Tissue Fibrosis. N Engl J Med, 1994;331:1286-1292.
Awad MR, El-Gamel A, Hasleton P, Turner DM, Sinnott Hutchinson IV. Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation, 1998;66:1014-1020.
Cambien F, Ricard S, Troesch A, Mallet C, Generenaz L, Evans A, et al. Polymorphisms of the transforming growth factor-beta1 gene in relation to myocardial infarction and blood pressure. The Etude Castemoin de I’Infarctus du Myocarde (ECTIM) Study. Hypertension, 1996;28:881-887.
Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, et al. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet, 1999;8:93-97.
Manhley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science, 1988;240:622-630.
Mensenkamp AR, Havekes LM, Romijn JA, Kuipers F. Hepatic steatosis and very low density lipoprotein secretion: the involvement of apolipoprotein E. J Hepatol, 2001;35(6):816-822.
Bernard S, Touzet S, Personne I, Lapras V, Bondon PJ, Berthezene F, et al. Association between microsomal triglyceride transfer protein gene polymorphism and the biological features of liver steatosis in patients with type II diabetes. Diabetología, 2000;43(8):995-999.
Panduro A, Ruiz B, Nuño P, Hernández ZH, León RE, Gurrola CM, Troyo R. Genetic polymorphism of apolipoprotein E in mexican alcoholic cirrhotics. Hepatology, 1998;28:198A.