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An ongoing genetic battle?

机译：正在进行的基因战？

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摘要

Babies born with physical defects in their hearts may survive, but they often suffer defects in heart function as adults. The physical and functional problems might, it seems, have the same genetic cause. Thirty years ago, children born with a heart defect had little chance of survival. Thanks to surgical and medical advances, the outlook now is usually not so grim, such that although the incidence of congenital heart disease (CHD) has not changed substantially (still nearly 1 out of every 100 live births), its prevalence is rising rapidly. In fact, there are now more than 1 million survivors of CHD in the United States alone. But as these people enter their teens and twenties, new disease processes are becoming apparent, including abnormal conduction of electricity within the heart and a diminished ability of the heart muscle to contract. These 'secondary' defects have generally been ascribed to abnormal blood flow resulting from the primary defect, but Pashmforoush et al., writing in Cell, suggest that the same mutated gene that causes an early defect in heart development in mice might later be directly involved in cardiac dysfunction, even in adulthood. If true in humans, the finding might allow postnatal approaches to alter the natural history of CHD in genetically at-risk individuals.
机译：出生时心脏有生理缺陷的婴儿可以存活，但成年后常常会遭受心脏功能的缺陷。似乎身体和功能上的问题可能具有相同的遗传原因。 30年前，患有心脏缺陷的儿童几乎没有生存的机会。由于外科手术和医学的进步，现在的前景通常并不那么严峻，以至于尽管先天性心脏病（CHD）的发病率并未发生实质性变化（每100例活产中仍占近1例），但其患病率迅速上升。实际上，仅在美国，现在就有超过100万的冠心病幸存者。但是，随着这些人进入十几岁和二十多岁，新的疾病过程变得越来越明显，包括心脏内部的异常电传导以及心肌收缩的能力下降。这些“继发性”缺陷通常归因于原发性缺陷导致的血流异常，但Pashmforoush等人在《细胞》杂志上撰文指出，导致小鼠心脏发育早期缺陷的相同突变基因可能稍后会直接参与其中。甚至在成年期都会出现心脏功能障碍。如果对人类正确，那么这一发现可能允许产后方法改变具有遗传风险的个体中冠心病的自然病史。

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  • 来源
    《Nature》 |2004年第6994期|p.819821-822|共3页
  • 作者

    Deepak Srivastava;

  • 作者单位

    Departments of Pediatrics (Cardiology) and Molecular Biology, University of Texas Southwestern Medical Center and Children's Medical Center Dallas;

  • 收录信息 美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 自然科学总论;
  • 关键词

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