2005, Número 4
<< Anterior Siguiente >>
Arch Cardiol Mex 2005; 75 (4)
Genética y biología molecular de las cardiopatías congénitas y adquiridas
Cruz RD, Peña DA, Arce FM, García TJJ, Pérez MOA, Vargas AG
Idioma: Español
Referencias bibliográficas: 79
Paginas: 467-482
Archivo PDF: 164.46 Kb.
RESUMEN
El corazón es el primer órgano que se forma y funciona en el embrión, de tal suerte que todos los eventos subsecuentes en la vida del organismo dependen de la habilidad de este órgano para atender las demandas de oxígeno y nutrientes que éste requiere. Las anormalidades en la formación del corazón, la forma más común de defectos humanos al nacimiento, afecta al 1% de los nacidos vivos, y su frecuencia en abortos espontáneos se eleva diez veces más. La patofisiología de este tipo de malformaciones congénitas se ha venido enriqueciendo en los últimos años con el conocimiento del Proyecto Genoma Humano; debido al gran avance que se ha producido en el conocimiento genético y molecular de los diferentes genes y cromosomas que suelen ser afectados y muchas veces heredados para producir una enfermedad congénita en general. Esta revisión trata de enfocar su atención sobre la información extraída de los análisis genéticos y moleculares en el diagnóstico, tratamiento y entendimiento de la patogénesis de las enfermedades cardiovasculares pediátricas, dirigidas tanto por los más comunes defectos cardíacos congénitos o heredados, como por los desórdenes esporádicos o adquiridos.
REFERENCIAS (EN ESTE ARTÍCULO)
American Heart Association. Heart disease and stroke statistics. 2004 Update. (American Heart Association, Dallas, Texas, USA, 2003).
Joffman JI: Incidence of congenital heart disease: Prenatal incidence. Pediatr Cardiol 1995; 16: 155-165.
Hunter DJ: Gene-environment interactions in human diseases. Nat Rev 2005; 6: 287-298.
Benson DW: Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease. Curr Opin Pediatr; 2000; 12: 497-500.
Srivastava D: HAND proteins: molecular mediators of cardiac development and congenital heart disease. Trends Cardiovasc Med 1999; 9: 8-11.
Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, et al: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac development pathways. J Clin Invest 1999; 104: 1567-1573.
Garg V, Kathirya IS, Barnes R, Schluterman MK, King IN, Butler CA, et al: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424: 443-447.
Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al: Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281: 108-111.
Jay PY, Berul CI, Tanaka M, Ishii M, Kurachi Y, Izumo S: Cardiac conduction and arrhythmia: insights from Nkx2:5 mutations in mouse and humans. Novartis Found Symp 2003; 250: 227-238.
Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, et al: Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet 2001; 69: 695-703.
Bruneau BG, Nemer G, Schmit JP, Charron F, Robitaille L, Caron S, et al: A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardio genesis and disease. Cell 2001; 106: 709-721.
Krantz ID, Piccoli DA, Spinner NB: Clinical and molecular genetics of Alagille syndrome. Curr Opin Pediatr 1999; 11: 558-564.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-468.
Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP: PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002; 39: 571-574.
Palau F: Friendreich´s ataxia and frataxin: molecular genetics, evolution and pathogenesis. Int J Mol Med 2001; 7: 581-589.
Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, et al: Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Hum Mol Genet 1999; 8: 1017-1023.
Strauss AW: The molecular basis of congenital cardiac disease. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 1998; 1: 179-188.
Marino B, Digilio MC: Congenital Heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 2000; 9: 303-315.
Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, et al: Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997; 43: 267-277.
Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, et al: Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000; 102: 432-437.
Wang DW, Yazawa K, George AL Jr, Bennett PB: Characterization o human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci USA 1996; 93: 13200-13205.
Towbin JA, Wang Z, Li H: Genotype and severity of long QT syndrome. Drug Metab Dispos 2001; 29: 574-579.
Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al: Genetics basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-296.
Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, et al: A single Na (+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999; 85: 1206-1213.
Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000; 102: 1178-1185.
Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001; 103: 85-90.
Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al: Mutations in the gene encoding laminin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999; 21: 285-288.
Bonnet D, Martin D, de Lonlay P, Villain E, Jouvet P, Rabier D, et al: Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999; 100: 2248-2253.
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, et al: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5: 11-16.
Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 438-440.
Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al: Alpha-tropomyosin and cardiac troponin T mutations cause familial hyprtrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77: 701-712.
Kimura A, Harada H, Parks JE, Nishi H, Satoh M, Takahashi M, et al: Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyophaty. Nat Gene 1997; 16: 379-382.
Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, et al: Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyophaty. J Clin Invest 1994; 93: 280-285.
Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32: 1687-1694.
Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262: 411-417.
Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, et al: Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003; 72: 102-114.
Marín-García J, Goldenthal MJ: La mitocondria y el corazón. Rev Esp Cardiol 2002; 55: 1293-1310.
Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, All Hassan AS, et al: Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 2001; 344: 1823-1831.
Beggs AH: Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997; 95: 2344-2347.
D´Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997; 61(4): 862-867.
Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT: Actin mutations in dilated cardiomyopathy, a heritable from of heart failure. Science 1998; 280: 750-752.
Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG: Desmin myopathy, a skeletal myopathy whit cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000; 342: 770-780.
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, et al: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000; 106: 655-662.
Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, et al: X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993; 87: 1854-1865.
Neuwald AF: Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 1997; 7: 4665-4666.
Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, et al: Arrhythmogenic right ventricula cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur J Hum Genet 2003; 11: 69-76.
Wallace DC: Disease of mitochondrial DNA. Ann Rev Biochem 1992; 61: 1175-1212.
Tanaka M, Ino H, Ohno K: Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990; 336: 1452.
Taniike M, Fukushima H, Yanagihara I, Tsukamoto H, Tanaka J, Fujimura H, et al: Mitochondrial tRNA Ile mutation in fatal cardiomyopathy. Biochem Biophys Res Commun 1992; 186: 47-53.
Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, et al: A new mtDNA mutation in the tRNA LEU(UUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994; 3: 37-43.
Marín-García J, Goldenthal MJ, Ananthakrishanan R, Pierpont ME: The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 2000; 6: 321-329.
Marín-García J, Ananthakrishanan R, Goldenthal MJ, Pierpont ME: Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J Inhreit Metab Dis 2000; 23: 625-633.
Cortés-Hernández P, García-Trejo JJ: Cardiomiopatías mitocondriales En: “Biología Molecular y Corazón”. Cap. 3 de “Tratado de Cardiología de la Sociedad Mexicana de Cardiología”. Ed. Intersistemas. 2006. pp 107-113. ISBN 970-655-860-8.
Serranno J, Palmeira CM, Kuehl DW, Wallace KB: Cardioselective and cumulative oxidation of mitochondrial DNA following subchronic doxorubicin administration. Biochim Biophys Acta 1999; 1411: 201-205.
Schoppet M, Maisch B: Alcohol and the heart. Herz 2001; 26: 345-352.
Corral-Debrinski M, Shoffner JM, Lott MT, Wallace DC: Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res 1992; 275: 169-180.
Marín-García J, Goldenthal MJ, Ananthakrishanan R, Pierpont ME, Fricker FJ, Lipshultz SE, et al: Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res 1996; 31: 306-313.
Li YY, Hengstenberg C, Maish B: Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 1995; 210: 211-218.
Holt IJ, Harding AE, Morgan-Hughes JA: Deletions of mtDNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-719.
Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, et al: Multiple mtDNA deletions features in autosomal dominant and recessive disease suggest distinct pathogenesis. Neurology 1998; 50: 99-106.
Zeviani M, Spinazzola A, Carelli V: Nuclear genes in mitochondrial disorders. Curr Opin Genet Dev 2003; 13: 262-270.
Lewis W, Dalakas MC: Mitochondrial toxicity of antiviral drugs. Nature Med 1995; 1: 1417-1422.
Lipshultz SE, Easley KA, Orav EJ, Kaplan S, Stare TJ, Bricker JT, et al: Absence of cardiac toxicity of zidovudine I infants. Pediatric Pulmonary and Cardiac Complications of Vertically Transmitted HIV Infection Study Group. N Engl J Med 2000; 343: 759-766.
Hiroi Y, Kudoh S, Monzen K, IkedaY, Yazaki Y, Nagai R, et al: Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 2001; 28: 276-280.
Wang J, Wilhelmsson H, Graff C, Li H, Oldfors A, Rustin P, et al: Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 1999; 21: 133-137.
Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, et al: Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 2001; 107: 1403-1409.
Puccio H, Simon D, Cosse M, Criqui-Filipe P, Tiziano F, Melki J, et al: Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposit. Nat Genet 2001; 27: 181-186.
Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, et al: TBX1 is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome. Cell 2001; 104: 619-629.
Singh GK: Kawasaki disease: an update. Indian J Pediatr 1998; 65: 231-241.
Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss HP, McCarthy R, et al: Detection of virus in myocardial tissues by polymerase chain reaction: evidence of adenovirus as a common cause of myocarditis in children and adults. J Am Coll Cardiol 2003; 42: 466-472.
Cea-Calvo L, Escribano Subias P, Tello de Menesses R, Lázaro Salvador M, Gómez Sánchez MA, Delgado Jiménez JF, et al: Tratamiento de la hipertensión pulmonar asociada a la infección por VIH con trerpostinil. Rev Esp Cardiol 2003; 56: 421-425.
Daley GQ, Cargill M: The heart SNPs a beat: polymorphisms in candidate genes for cardiovascular disease. Trends Cardiovasc Med 2001; 11: 60-66.
O´Rourke B: Myocardial KATP channels in preconditioning. Circulation Res 2000; 87: 845-855.
Raflee P, Shi Y, Kong X, Pritchard KA Jr, Twweddell JS, Litwin SB, et al: Activation of protein kinases in chronically hypoxic infant human and rabbit hearts: role in cardioprotection. Circulation 2002; 106: 239-245.
Ning XH, Xu CS, Song YC, Xiao Y, Hu YJ, Lupinetti FM, et al: Hypothermia preserves function and signaling for mitochondrial biogenesis during subsequent ischemia. Am J Physiol 1998; 274: H786-H793.
Mosquera Pérez I, Rueda Núñez F, Medrano López C, Portela Tórron F, Zavanella Botta C, Castro Beiras A: Tratamiento mediante hipotermia de la taquicardia ectópica de la unión tras cirugía cardíaca infantil. Rev Esp Cardiol 2003; 56: 510-514.
Sanguinetti MC, Bennett PB: Anti-arrhythmic drug target choices and screening. Circ Res 2003; 93: 491-499.
Beltrami AP, Barlucchi L, Torella D, Baker M, Limana F, Climenti S, et al: Adult cardiac item cells are multipotent and support myocardial regeneration. Cell 2003; 114: 763-776.