A Decade of Advances in the Molecular Embryology and Genetics Underlying Congenital Heart Defects

被引:21
作者
Kodo, Kazuki [1 ]
Yamagishi, Hiroyuki [1 ]
机构
[1] Keio Univ, Sch Med, Div Pediat Cardiol, Dept Pediat,Shinjuku Ku, Tokyo 1608582, Japan
关键词
Congenital heart disease; Genes; Genetics; Genotype; Pediatrics; CARDIAC OUTFLOW TRACT; NEURAL CREST CELLS; FORKHEAD TRANSCRIPTION FACTORS; CARDIOVASCULAR DEVELOPMENT; PROGENITOR CELLS; SONIC HEDGEHOG; ARTERIAL POLE; SEMAPHORIN; 3C; SMOOTH-MUSCLE; GATA FACTORS;
D O I
10.1253/circj.CJ-11-0636
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Congenital heart defects (CHD) are the most common type of human birth defect and result in significant mortality worldwide. Despite numerous epidemiologic studies in the past decades, few genetic causes have been identified until recently. CHD result from abnormal morphogenesis of the systematic cardiovascular construction during development. Recent advances in molecular embryology, including the discovery of a new source of cardiac progenitor cells termed the second heart field (SHF), have revealed that the heart arises from multiple distinct embryonic origins. Cells derived from the SHF contribute to the development of the cardiac outflow tract, together with the other progenitor cell lineage called cardiac neural crest cells. Numerous cardiac transcription factors regulate these progenitor cells during heart development. Elucidation of the transcriptional network for these cardiac progenitor cells is essential for further understanding cardiac development and providing new insights into the morphogenesis of CHD. This review outlines the recent discoveries of the molecular embryology of the normal heart and the genetic basis of CHD. (Circ J 2011; 75: 2296-2304)
引用
收藏
页码:2296 / 2304
页数:9
相关论文
共 64 条
[1]   Conservation of sequence and expression of Xenopus and zebrafish dHAND during cardiac, branchial arch and lateral mesoderm development [J].
Angelo, S ;
Lohr, J ;
Lee, KH ;
Ticho, BS ;
Breitbart, RE ;
Hill, S ;
Yost, HJ ;
Srivastava, D .
MECHANISMS OF DEVELOPMENT, 2000, 95 (1-2) :231-237
[2]   Early induction of neural crest cells: lessons learned from frog, fish and chick [J].
Aybar, MJ ;
Mayor, R .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2002, 12 (04) :452-458
[3]   Calcium signalling: Dynamics, homeostasis and remodelling [J].
Berridge, MJ ;
Bootman, MD ;
Roderick, HL .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2003, 4 (07) :517-529
[4]  
Brown CB, 2001, DEVELOPMENT, V128, P3071
[5]   Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis [J].
Brown, DD ;
Martz, SN ;
Binder, O ;
Goetz, SC ;
Price, BMJ ;
Smith, JC ;
Conlon, FL .
DEVELOPMENT, 2005, 132 (03) :553-563
[6]   Transcriptional regulation of vertebrate cardiac morphogenesis [J].
Bruneau, BG .
CIRCULATION RESEARCH, 2002, 90 (05) :509-519
[7]   A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease [J].
Bruneau, BG ;
Nemer, G ;
Schmitt, JP ;
Charron, F ;
Robitaille, L ;
Caron, S ;
Conner, DA ;
Gessler, M ;
Nemer, M ;
Seidman, CE ;
Seidman, JG .
CELL, 2001, 106 (06) :709-721
[8]   Building the mammalian heart from two sources of myocardial cells [J].
Buckingham, M ;
Meilhac, S ;
Zaffran, S .
NATURE REVIEWS GENETICS, 2005, 6 (11) :826-835
[9]   Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart [J].
Cai, CL ;
Liang, XQ ;
Shi, YQ ;
Chu, PH ;
Pfaff, SL ;
Chen, J ;
Evans, S .
DEVELOPMENTAL CELL, 2003, 5 (06) :877-889
[10]   Transforming growth factor-β-induced differentiation of smooth muscle from a neural crest stem cell line [J].
Chen, SY ;
Lechleider, RJ .
CIRCULATION RESEARCH, 2004, 94 (09) :1195-1202