Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?
Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?
复制标题
肥厚型心肌病的肌肉功能障碍：需要什么才能转化？
DOI：
10.1007/s10974-014-9374-0
复制
发表时间：
2014
影响因子：
2.7
通讯作者：
Ho,CarolynY
中科院分区：
文献类型：
--
作者：
Poggesi,Corrado;Ho,CarolynY
肥厚型心肌病（HCM）是由肌节基因突变引起的。因此，HCM提供了研究心脏分子运动装置的变化如何影响心脏结构和功能的绝佳机会。尽管HCM的遗传基础已被很好地描述，但对肌节突变的确切后果-它们如何重塑心脏，以及这些变化如何导致与HCM相关的戏剧性临床后果-的理解要有限得多。更精确地描述从肌节突变到心肌功能改变的机制对于深入了解基础疾病生物学和表型进化至关重要。这些知识将有助于促进旨在纠正和预防HCM疾病发展的新治疗策略的发展。
Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere genes. As such, HCM provides remarkable opportunities to study how changes to the heart’s molecular motor apparatus may influence cardiac structure and function. Although the genetic basis of HCM is well-described, there is much more limited understanding of the precise consequences of sarcomere mutations—how they remodel the heart, and how these changes lead to the dramatic clinical consequences associated with HCM. More precise characterization of the mechanisms leading from sarcomere mutation to altered cardiac muscle function is critical to gain insight into fundamental disease biology and phenotypic evolution. Such knowledge will help foster development of novel treatment strategies aimed at correcting and preventing disease development in HCM.