Brion M, Sobrino B, Martinez M, Blanco-Verea A, Carracedo A
Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain; Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.
Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2015 Sep;18:160-70. doi: 10.1016/j.fsigen.2015.07.010. Epub 2015 Jul 23.
Sudden cardiac death in the young is a very traumatic event that occurs often in apparently healthy individuals without an explainable cause of death after a comprehensive medico-legal investigation. Knowledge about the pathologies with a risk of sudden death is increasingly showing a greater underlying genetic heterogeneity, which provides one of the main handicaps for molecular autopsy. On the other hand the enormous technological advances in sequencing technologies, allow us to analyse as many genes as we want at a cost increasingly reduced. The sum of these two factors (increased knowledge of genetics and available technologies) allow us to make an individualized study of the causes of sudden cardiac death in young adults, through massive sequencing of all potential genes involved in the process. We define this approach as massive genomic autopsy, and with this review we will try to explain the possible scenarios and methods available for its implementation.
年轻人心脏性猝死是一种极具创伤性的事件,常在表面健康的个体中发生,经过全面的法医学调查后仍无死因可解释。关于具有猝死风险的病理学知识越来越显示出潜在的基因异质性更强,这是分子尸检的主要障碍之一。另一方面,测序技术取得了巨大的技术进步,使我们能够以越来越低的成本分析任意数量的基因。这两个因素(遗传学知识增加和现有技术)相结合,使我们能够通过对该过程中所有潜在相关基因进行大规模测序,对年轻人心脏性猝死的原因进行个体化研究。我们将这种方法定义为大规模基因组尸检,在本综述中,我们将试图解释其可能的情形以及可供实施的方法。