Srivastava D, Olson E N
Department of Molecular Biology, University of Texas, Southwestern Medical Center at Dallas, 75390-9148, USA.
Nature. 2000 Sep 14;407(6801):221-6. doi: 10.1038/35025190.
Congenital heart disease is the leading non-infectious cause of death in children. It is becoming increasingly clear that many cardiac abnormalities once thought to have multifactorial aetiologies are attributable to mutations in developmental control genes. The consequences of these mutations can be manifest at birth as life-threatening cardiac malformations or later as more subtle cardiac abnormalities. Understanding the genetic underpinnings of cardiac development has important implications not only for understanding congenital heart disease, but also for the possibility of cardiac repair through genetic reprogramming of non-cardiac cells to a cardiogenic fate.
先天性心脏病是儿童非传染性死亡的主要原因。越来越明显的是,许多曾被认为具有多因素病因的心脏异常可归因于发育控制基因的突变。这些突变的后果在出生时可能表现为危及生命的心脏畸形,或在以后表现为更细微的心脏异常。了解心脏发育的遗传基础不仅对理解先天性心脏病具有重要意义,而且对于通过将非心脏细胞进行基因重编程使其转变为心脏源性细胞来实现心脏修复的可能性也具有重要意义。