Taylor Matthew R, Bristow Michael R
University of Colorado Cardiovascular Institute, Denver, USA.
Novartis Found Symp. 2006;274:73-83; discussion 83-9, 152-5, 272-6.
Heart muscle disease and one of its consequences, chronic heart failure, are caused by altered gene expression. There are three general types of changes in gene expression that can cause or affect the natural history of heart muscle disease. These are: (1) mutations in genes that lead to changes in important functional properties of proteins critical to myocardial structure and/or function; (2) polymorphic variation in disease modifying genes and proteins, leading to altered function of a common gene product variant; and (3), regulated altered expression of a wild type gene and protein gene product. The role of these alterations in gene expression in the cause, progression and interaction with therapy of heart muscle disease and heart failure is discussed.
心肌疾病及其后果之一——慢性心力衰竭,是由基因表达改变引起的。基因表达的改变有三种常见类型,它们可导致或影响心肌疾病的自然病程。这些类型包括:(1)基因发生突变,导致对心肌结构和/或功能至关重要的蛋白质的重要功能特性发生变化;(2)疾病修饰基因和蛋白质的多态性变异,导致常见基因产物变体的功能改变;(3)野生型基因和蛋白质基因产物的调控性表达改变。本文讨论了这些基因表达改变在心肌疾病和心力衰竭的病因、进展以及与治疗的相互作用中的作用。