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[心律失常的遗传基础]

[Genetic bases of arrhythmias].

作者信息

Brugada R

机构信息

Servicio de Cardiología, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

Rev Esp Cardiol. 1998 Apr;51(4):274-85. doi: 10.1016/s0300-8932(98)74745-1.

Abstract

We have long known that there are diseases which are inherited from the parents, but it has not been until this last decade, with the introduction of the techniques of molecular biology, that we have been able to study them. These techniques have enable us to localize and detect the gene that causes a disease in the members of a family. The identification of a disease-causing gene does not lead only to the diagnosis and possible treatment of a very select patient population (the one with the familial disease), but also to a better understanding of the molecular basis and pathogenesis of the non-familial forms of the disease. Cardiology, despite having received these techniques more slowly, is now completely. Involved in the study of the molecular basis of cardiac diseases. The first gene to be mapped was that of hypertrophic cardiomyopathy in 1989. Since then, advances have been achieved at all levels in familial cardiac diseases. Hypertension, atherosclerosis, congenital heart diseases, and arrhythmias have all benefitted from the new techniques. Spectacular progress has been achieved in understanding familial heart rhythm disturbances, like long QT syndrome, both as congenital and acquired diseases. In the last five years 4 loci and 3 genes have been identified. The first studies of genetic based therapy have shown that in the near future patients with receive medication depending on the affected gene. Other familial arrhythmias are presently under study. Loci have been detected in some, such as bundle branch block and familial atrial fibrillation. At the speed that the techniques are evolving, and with the impressive advances of the Human Genome Project, we can expect to find the rest of the genes causing familial diseases in the next few years. These results are encouraging and clearly indicate the need for genetic diagnosis in all patients with these diseases. The diagnostic and therapeutic implications of all these discoveries could be of paramount importance.

摘要

长久以来我们都知道有些疾病是由父母遗传而来的,但直到过去十年,随着分子生物学技术的引入,我们才得以对其进行研究。这些技术使我们能够在一个家族的成员中定位并检测出导致疾病的基因。致病基因的识别不仅有助于对极少数特定患者群体(患有家族性疾病的患者)进行诊断和可能的治疗,还能让我们更好地理解该疾病非家族性形式的分子基础和发病机制。心脏病学尽管接受这些技术的速度较慢,但现在也完全投身于心脏病分子基础的研究。1989年,第一个被定位的基因是肥厚型心肌病的基因。从那时起,家族性心脏病在各个层面都取得了进展。高血压、动脉粥样硬化、先天性心脏病和心律失常都从这些新技术中受益。在理解家族性心律紊乱方面取得了显著进展,比如长QT综合征,无论是先天性还是后天性疾病。在过去五年里,已经确定了4个基因座和3个基因。基于基因的治疗的初步研究表明,在不久的将来,患者将根据受影响的基因接受药物治疗。目前正在研究其他家族性心律失常。在一些疾病中已经检测到了基因座,如束支传导阻滞和家族性心房颤动。以技术发展的速度,以及人类基因组计划令人瞩目的进展,我们有望在未来几年找到导致家族性疾病的其余基因。这些结果令人鼓舞,清楚地表明对所有患有这些疾病的患者进行基因诊断的必要性。所有这些发现的诊断和治疗意义可能至关重要。

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