Parvari Ruti, Levitas Aviva
Department of Virology and Developmental Genetics, Faculty of Health Sciences and the National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Biochem Res Int. 2012;2012:639250. doi: 10.1155/2012/639250. Epub 2012 Jul 9.
Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM). The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.
心肌病是心力衰竭的重要病因，也是儿童和成人心脏移植的主要指征。本文描述了扩张型心肌病（DCM）的遗传学知识现状。确定致病突变很重要，因为DCM的症状前干预已被证明在预防发病和死亡方面具有价值。此外，与一般遗传学研究一样，突变基因的鉴定对相关家庭和人群有直接的临床影响。立即鉴定致病突变可通过携带者筛查和产前检测极大地增加疾病预防的可能性。这通常减轻了受影响家庭的社会孤立负担，因为健康的家庭成员可以确保生育健康的孩子。鉴定突变基因有可能促进对疾病病因、病理生理学以及潜在治疗方法的理解。本文介绍了导致遗传性DCM发病机制的基因变异或致病突变，并试图将这些与突变基因的功能联系起来。
