论文部分内容阅读
肥厚性心肌病是符合孟得尔法则的单基因病,以心肌肌小节功能缺陷为主要特点。原来普遍认为是心肌收缩障碍导致了代偿性的心肌肥厚。现在认为这种观点与现有的实验室证据不一致。研究了突变收缩蛋白的功能,老鼠模型以及临床病例后,有人认为:是由于肌小节HCM的突变导致了ATP利用障碍。因为在各种代谢基因突变中都可以找到肥厚性心肌病样的表型。这样,首先一些在临床上观察到但未能解决的延迟发作和不对称心肌肥厚的问题可以得到解释。其次可以为HCM的治疗提供参考。最后可以延伸到一般的心肌肥厚和心衰。
Hypertrophic cardiomyopathy is a single gene disease that conforms to the rule of Mendel, and is characterized by myocardial function defects. It is generally believed that myocardial contractility leads to compensatory cardiac hypertrophy. Now that this view is inconsistent with the existing laboratory evidence. After studying the function of mutant contractile proteins, mouse models and clinical cases, it was suggested that mutations in HCM in the muscle segments lead to ATP utilization disorders. Because in a variety of metabolic mutations can be found in hypertrophic cardiomyopathy-like phenotype. Thus, some of the clinically observed but unresolved problems of delayed onset and asymmetric cardiac hypertrophy can be explained. Second, it can provide reference for the treatment of HCM. Finally can be extended to the general hypertrophy and heart failure.