The biochemical fundamentals of angiotensin converting enzyme (ACE) gene polymorphism in myocardial infarction

Gelişmiş ülkelerde en başta gelen morbidite ve mortalite nedeni miyokard infarktüsü ve koroner arter hastalıklarıdır. Miyokard infarktüsü ABD'de ve diğer birçok gelişmiş ülkede tüm nedenlere bağlı ölümlerin yaklaşık yarısından sorumludur. Son zamanlarda miyokard infarktüsü oluşumundan sorumlu olabilecek bazı genetik risk faktörleri üzerinde çalışmalar artmıştır. Bunların arasında en popüler olanlarından biri Angiotensin Dönüştürücü Enzim (ADE) genindeki I/D polimorfizmi ve miyokard infarktüsünün ilişkisini araştıran çalışmalardır. Miyokard infarktüsü ve koroner arter hastalıklarına yol açan genetik belirteçlerin saptanması, bu hastalıkları önleme ve tedavi çalışmalarında kolaylık sağlayabilecektir. Bu genetik belirteçlerin önceden saptanması durumunda klinik belirtiler ve kardiyovasküler komplikasyonlar ortaya çıkmadan yüksek risk grubundaki kişiler belirlenebilecekler ve uygun tedavi için takibe alınabileceklerdir. Tüm bu çalışmalar ADE gen polimorfizminin kardiyovasküler riskin tahmininde, yüksek risk gruplarındaki hastalara erken ve etkili tedavinin planlanması ve Önceden belirlenmesinde ışık tutabileceği düşüncesinden hareketle sürdürülmektedir.

Miyokard infarktüsünde angiotensin dönüştürücü enzim (ADE) gen polimorfizminin biyokimyasal temelleri

Myocardial Infarction (MI) is the most important reason of mortality and morbidity in developed countries. It is detected that about half of the deaths, no matter what reason is, in the USA is sourced from MI. In recent years, a lot of scientific studies have increased on some genetic risk factors responsible from the formation of MI. One of the most popular of these is searching for the relations between the I/D polymorphism in the ACE gene and MI. In this study, it is assumed that ACE I/D gene polymorphism is a useful indicator in the detection of the risk of cardiovascular disease, the better control of the people in high risk group and the optimal cure to start at an earlier stage. By the help of these studies the risk factors of genetic origin, using the genetic indicators and new risk factors, and supporting the information by some easily performed biochemical experiments would supply great easiness in diagnosis and cure and save life.

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  • Agerholm-Larsen B, Nordestgaard BG, Steffensen R, Sorensen TIA, Jensen G and Tybjaerg-Hansen A. AACE gene polymorphism: Ischemic heart disease and longevity in 10 150 individuals. A case-referent and retrospective cohort study based on the Kopenhagen City Heart Study. Circulation. 95:2358-2367, 1997.
  • Aldermann MH, Maddhavan S, Ooi WL, Cohen H, sealey JE and Laragh JH. Assocition of the renin-sodium profile with the risk of MI in patients with hypertension. N Engl J Med. 324:1098-1104,1991.
  • Arbustini E, Grasso M and Fasani R. Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosklerosis and myocardial infarction. Br Heart J. 74:584-591,1995. Arca M, Panniteri G and Campagna F. ACE gene polymorphism is not associated with coronary artery atherosclerosis and MI in a sample of Italian patients. Eur J Clin Invest. 28:485-490,1998.
  • Badenhop RF, Wang XL and Wilcken DEL. ACE genotypes in children and coronary events in their grandparents. Circulation. 91:1655-1658,1995.
  • Beohar N, Damaraju S, Prather A, Yu Q-T, Raizner A, Kleiman NS, Roberts R and Marion AJ. ACE genotyp¤e DD is a risk factor for coronary artery disease. J Invest Med. 43:275-280,1995.
  • Blundell T, Sibanda BL and Pearl L. Three-dimensional structure, specifity and catalytic mechanism of renin. Nature. 304:273-275, 1983.
  • Bockxmeer FM, Mamotte C D and Burke V, Taylor RR. ACE Gene Polymorphism and Coronary Heart Disease. Clin. Sci., 99(3), 247-251, 2000.
  • Bohn M, Berge KE, Bakken A, Eriksen J and Berg K. Insertion/deletion polymorphism at the locus for ACE and parental istory of MI. Clin Genet. 44:298-301,1993.
  • Bohn M, Berge KE, Bakken A, Erikssen J and Berg K. Insertion/deletion polymorphism at the locus for angiotensin converting enzyme and myocardial infarction. Clin Genet. 44:292-297, 1993.
  • Bunning P and Riordan JF. Sulfate potentiation of the chloride activation of the ACE. Biochemistry. 26:3374-3377,1987.
  • Bunning P, Holmquist B and Riordan JF. Substrate specifity and kinetic characteristics of angiotensin converting enzyme. Biochemistry. 22:103-110, 1983.
  • Caldwell PRB, Seegal BC, Hsu KC, Das M and Soffer RL. Angiotensin-converting enzyme: vascular endothelial localization. Science. 191:1050-1051, 1976.
  • Cambien F, Poirier O and Lecerf L. Deletion polymorphism in the gene for angiotensin converting enzyme is a potent risk factor for myocardial infarction. Nature. 359:641-644, 1992.
  • Canavy I, Henry M, Morange PE, Tiret L, Poirier O, Ebagosti A, Bory M and Juhan-Vague I. Genetic Polymorphisms and Coronary Artery Disease in the South France. Thromb.Haemost. 83(2), 212-216, 2000.
  • Clauser E, Gaillard I, Wei L and Corvol P. Regulation of angiotensinogen gene. Am J Hypertens. 2:403-410,1989.
  • Covolo L, Gelatti U, Metra M, Donato F, Nodari S, Pezzali N, Dei Cas L and NardiG. Angiotensin-convertingenzyme gene polymorphism and heart failure: a casecontrol study. Biomarkers. 8(5):429-436, 2003.
  • Das M, Hartley JL and Soffer RL. Serum angiotensin converting enzyme. J Biol Chem. 252:1316-1319,1977.
  • Doolittle RF. Angiotensinogen is related to the antitrypsinantithrombin- ovalbumin family. Science. 222:417-419,1983.
  • Dzau VJ, Burt DW and Pratt RE. Molecular biology of the renin angiotensin system. Am.J.Physiol. 255:563- 573,1988.
  • Dzau VJ, Pratt RE. Renin-angiotensin system: biology, pfysiology and pharmacology. Handbook of Experimental Cardiology. 1631-1661, 1986.
  • Dzau VJ. Cell biology and genetics in cardiovascular disease. J Hypertens. 12:3-10,1994.
  • Ehlers MRW and Riordan JF. ACE: Biochemistry and molecular biology. Hypertension. Pathophysiology, Diagnosis and Management. New York, Raven Press. pp.1217-1231,1990.
  • Ehlers MRW, Riordan JF. Angiotensin conveting enzyme: Biochemistry and molecular biology, in Laragh JH, Brenner BM(eds): Hypertension. Pathophysiology and treatment. New York, McGraw-Hill. 250-270,1983.
  • Eichner JE, Chiristiansen VJ, Moore WE, Dunn ST and Schechter E. Atherosclerosis. 54(3):673-679, 2001. Erdos EG. Angiotensin I converting enzyme and the changes in our concepts through the years. Hypertension. 16:363- 370,1990.
  • Evans AE, Poirier O, Kee F, Lecerf L, McCrum E, Falconer T, Crane J, O’Rourke DF and Cambien F. Polymorphisms of the ACE gene in subjects who die from coronary heart disease. QJM. 87:211-214,1994.
  • Fabris B, Jackson B, Kohzuki M, Perich R and Johnston CI. Increased cardiac ACE in rats with chronic heart failure. Clin Exp Pharmacol Physiol. 17:309-314,1990.
  • Fatini C, Abbate R, Pepe G, Battaglini B, Gensini GF and Guazzelli R. Searching for a Better Assesment of the Individual Coronary Risk Profile: The Role of Angiotensin II Type1 Receptor and Angiotensinogen Gene Polymorphisms. Eur. Heart Jour. 21: 633-638,2000.
  • Friedl W, Krempler F, Paulweber B, Pichler M and Sandhofer F. A deletion polymorphism in the 6 Figen Esin Kayhan and Cenk Sesal angiotensin converting enzyme gene is not associated with coronary heart disease in an Ausrian population. Atherosclerosis. 112:137-143, 1995.
  • Frossard MP, Lestringant GG, Obineche EN and Hill SH. Ann Saudi Med. 18(5):389-392, 1998.
  • Ganong WF. Reproduction and the renin-angiotensin system. Neuroscience and Biobehavioral Reviews. 19:241-250, 1995.
  • Gomez RA, Chevalier RL, Carey RM and Peach MJ. Molecular biology of the renin-angiotensin system. Kidney Int 38:18-23, 1990.
  • Hansson L, Lindholm DH, Niskanen L, Lanke J, Hedner T and Niklason A. Effects of angiotensin converting enzyme inhibition compared with conventional therapy on cardiovascular morbidity and mortality in hypertension. Lancet. 353:611-616, 1999.
  • Herbert PN, Hyams JS and Bernier DN. Apolipoprotein B- 100 deficiency:intestinal stenosis despite apolipoprotein B-48 synthesis. J Clin Invest. 76:403-412,1985.
  • Jandeleit K, Jackson B, Perich R, Paxton D and Johnston CI. Angiotensin converting enzyme in macroand microvessels of the rat. Clinical and Experimental Pharmacology and Physiology. 18:353-356, 1991.
  • JeunemaitreX, Ledru F, Battaglia S, Guillanneuf MT, Courbon D, Darmon O, Guize L, Guermonprez JL, Diebold B and Ducimetiere P. Genetic polymorphisms of RAS and angiographic extent and severity of coronary artery disease: The CORGENE STUDY. Hum.Genet. 99(1)66,1997.
  • Katsuya T, Koike G, Yee TW and Sharpe N. Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet. 345(8965):1600-1603,1995.
  • Leung PS, Carlsson PO. Tissue renin-angiotensin system: its expression, localization, regulation and potential role in the pancreas. Journal of Molecular Endocrinology. 26:155-164, 2001.
  • Lindpainther K, Lu W and Neidermajer N. Selective activation of cardiac angiotensinogen gene expression in post-infarction ventricular remodelling in the rat. J Mol Cell Cardiol. 25:133-143,1993.
  • Lindpainther K, Pfeffer MA and Kreutz R. A Prospective evaluation of an angiotensin converting enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med. 332:706-711, 1995.
  • Ludwig E, Corneli PS, Anderson JL, Marshall HW, Lalouel JM and Ward RH. ACE gene polymorphism is associated with MI but not development of coronary stenosis. Circulation. 91:2120-2124,1995.
  • Magrini F, Reggiani P, Roberts N, Meazza R, Ciulla M and Zanchetti A. Effects of angiotensin and angiotensin blockade on coronay circulation and coronary reserve. Am J Med. 84:55-60,1988.
  • Marian AJ, Yu Q, Workman R, Greve G and Roberts R. Angiotensin converting enzyme polymorphism in hypertrophic cardiomyopathy and suden cardiac death. Lancet. 342:1085-1086,1993.
  • Mattei MG, Hubert C, Alhenc-Gelas F, Roeckal N, Corvol P and Soubrier F. ACE gene is on chomosome.17. Cytogenet Cell Genet. 51:1041,1989.
  • Mattu RK, Needham EW, Galton DJ, Frangos E, Clark AJ and Caulfield M. A DNA variant at the angiotensin converting enzyme gene locus associates with coronary artery disease in the Caerphilly Heart Study. Circulation. 91:270-274, 1995.
  • Miettinen HE, Korpela K, Hamalainen L and Kontula K. Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Korelian patients with coronary heart disease. Hum Genet. 94:189-192,1999.
  • Mochizuki T, Eberli FR, Apstein CS and Lorell BH. Exacerbetion of ischemic dysfunction by angiotensin-II in red cell-perfused rabbit hearts:effects on coronary flow, contractility, and high-energy phosphate metabolism. J Clin Invest. 89:490-498,1992.
  • Morris BJ, Iwamoto HS and Reid IA. Localization of angiotensinogen in rat liver by immunocytochemistry. Endocrinology. 105:790-796,1979.
  • Murphy TJ, Alexander R, Griendling KK, Runge MS and Bernstein KE. Isolation of cDNA encoding the vascular type 1 angiotensin-II receptor. Nature. 351:233-236,1991.
  • Nakauchi Y, Suehiro T and Yamamoto M. Siginificance of angiotensin-I converting enzyme and angiotensin-II type 1 receptor gene polymorphisms as risk factors for coronary heart disease. Atherosclerosis. 125:161-169,1996.
  • Oparil S: Angiotensin I converting enzyme inhibitors and analouges of angiotensin II. Hypertension. Pathophysiology, Diagnosis and Management. New York, Raven Press. pp. 250-270,1983.
  • Ortega EH, Fernandez-Aceituno AM., Esparragon F., Perera O., Nuez F, Espinosa AD, Perez DF, Prieto AAand Perez JCR.: The Involvement of the Renin-Angiotensin Sytem Gene Polymorphisms in Coronary Artery Disease. Heart Disease, 55(2), 2002.
  • Packer M. Pathophysiology of chronic heart failure. Lancet. 340:88-92, 1992.
  • Peach MJ. Renin-angiotensin system. Physiol Rev. 57:313- 70,1977.
  • Phillips MI, Speakman EA and Kimura B. Levels of angiotensin and molecular biology of the tissue reninangiotensin system. Regulatory Peptides. 43:1-20, 1993.
  • Reid IA, Morris BJ and Ganong WF. The renin-angiotensin system. Annual Review of Physiology. 40:377-410,1978.
  • Ridker PM, Gaboury CL, Conlin PR, Seely EW, Williams GH and Vaughan DE. Stimulation of plasminogen activator in vivo by infusion of angiotensin-II: evidence of a potential interaction between the renin-angiotensin system and fibrinolytic function. Circulation. 87:1969-1973,1993. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P and Soubrier F. An insertion/deletion polymorphism in the ACE gene accounting for half the variance of serum enzyme levels. J Clin Invest. 86:1343-1346,1990.
  • Rigat B, Hubert C, Corvol P and Soubrier F. PCR detection of the I/D polymorphism of the human angiotensin converting gene. Nucleid Acids Res. 20:1433,1992.
  • Samani N, Thompson JR, O’Toole L, Channer K and Woods KL. A meta analysis of the association of the deletion allele of the ACE gene with MI. Circulation. 94:708-712, 1996.
  • Sasaki K, Yamano Y, Bardhan S, Iwai N, Murray JJ, Hasegawa M, Matsuda Y and Inagami T. Cloning and expression of a complementary DNA encoding a bovine adrenal angiotensin-II type 1 receptor. Nature. 351:230-232,1991.
  • Shadrina MI., Slominskii PA, Miloserdova OV, Perova NV and Limborskaika SA. Polymorphism of the Angiotenin Converting Enzyme Gene ‹n Patients with Coronary Heart Disease from Moscow Population. Genetica. 37(4), 540-544,2001.
  • Soubrier F and Corvol P. Clinical implications of the molecular biology of the renin angiotensin system. Eur Heart J. 11:3-10,1990.
  • Soubrier F, Alhenc-Gelas F, Hubert C, Alegrini J, John M, Trager G and Corvol P. Two putative active centres in human angiotensin I converting enzyme revealed by molecular cloning. Proc Natl Acad Sci USA. 85:9386-9390,1988.
  • Tahmasebi B, Puddefoot JR, Inwang ER and Vinson GP. The tissue renin-angiotensin system in human pancreas. Journal of Endocrinology. 161:317-322,1999.
  • Tiret L, Bonnerdeaux A and Poirier O. Synergistic effects of ACE and angiotensin-II type 1 receptor gene polymorphisms on risk of MI. Lancet. 344:910-913,1994.
  • Tiret L, Kee F, Poirier O, Nicaud V, Lecerf L, Evans AE, Cambou JP, Arveiler D, Luc G, Amouyel P, Cambien F. Deletion polymorphism in the ACE gene associted with parental history of MI. Lancet. 341:991-992,1993.
  • Yoshida K, Ishigami T, Nakazawa I., Ohno A, Tamura K, Fukuoka M, Mizushima S and Umemura S. Association of Essential Hypertension ‹n Elderly Japanese with I/D Polymorphism of the ACE Gene. J.Hum.Genet. 45(5), 294, 2000.