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遗传性心律失常的基因检测:当前技术水平与未来发展方向

Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.

作者信息

Hylind Robyn J, Chandler Stephanie F, Skinner Jonathan R, Abrams Dominic J

机构信息

Inherited Cardiac Arrhythmia Program, Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.

出版信息

J Innov Card Rhythm Manag. 2018 Nov 15;9(11):3406-3416. doi: 10.19102/icrm.2018.091102. eCollection 2018 Nov.

Abstract

The seminal discovery that sequence variation in genes encoding cardiac ion channels was behind the inherited cardiac arrhythmic syndromes has led to major advances in understanding the functional biological mechanisms of cardiomyocyte depolarization and repolarization. The cost and speed with which these genes can now be sequenced have allowed for genetic testing to become a major component of clinical care and have led to important ramifications, yet interpretation of specific variants needs to be performed within the context of the clinical findings in the proband and extended family. As technology continues to advance, the promise of therapeutic manipulation of certain genetic pathways grows ever more real.

摘要

一项具有开创性的发现表明,编码心脏离子通道的基因序列变异是遗传性心律失常综合征的病因,这使得我们在理解心肌细胞去极化和复极化的功能性生物学机制方面取得了重大进展。如今,对这些基因进行测序的成本和速度使得基因检测成为临床护理的一个主要组成部分,并产生了重要影响,然而,特定变异的解读需要在先证者及其大家庭的临床发现背景下进行。随着技术的不断进步,对某些遗传途径进行治疗性操控的前景变得越来越现实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/6f8eb5c6889c/icrm-09-3406-g001.jpg

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