慢性疲劳应激状态下青年人心源性猝死事件中核基因CALM1与线粒体ND2基因的作用机制研究

慢性疲劳是高度发达的当今社会普遍存在的现代病。慢性疲劳应激状态下青年人心源性猝死事件屡见不鲜。本课题组前期研究发现慢性疲劳应激状态下青年冠心病猝死患者线粒体ND2基因突变C5264T可能参与了猝死的发生发展过程。在前期工作基础上拟（1）通过对慢性疲劳应激人群、慢性疲劳应激状态下心源性猝死人群及正常对照人群线粒体基因ND2、核基因CALM1测序对比分析，研究突变位点及突变频率的差异。（2）通过检测携带ND2基因突变的慢性疲劳应激人群线粒体呼吸链复合物活性变化，ATP/ADP比例，线粒体活性氧簇以及RNA的表达，以及CALM1基因突变后钙离子电流、钙离子通道蛋白的变化，研究突变对细胞功能的影响。以期寻找慢性疲劳应激状态下心源性猝死的遗传学标志。

Nowadays, chronic fatigue syndrome has been one of the modern diseases. Sudden cardiac death in young people induced by chronic fatigue stress is common, however few related researches has been done. Our previous studies found sudden coronary death in young patients with mitochondrial gene ND2 mutation C5264T induced by chronic fatigue stress, may lead to mitochondrial dysfunction and participated in the development of sudden death. On the basis of the previous researches, we are going to initiate our studies as follows: (1). Comparatively study loci and frequencies of mitochondrial gene ND2 mutations and nuclear gene CALM1 mutations in chronic fatigue stress group, sudden cardiac death group induced by chronic fatigue stress and the healthy control group . (2). Detect changes of mitochondrial function including respiratory chain complex activity, ATP/ADP ratio, mitochondrial reactive oxygen species and expression of RNA, calcium currents and calcium ion channel protein with CALM1 and ND2 mutations in chronic fatigue stress group.