线粒体DNA4329C〉G突变相关高血压家系分析  

Mitochondrial DNA mutation associated with hypertension in tRNA Ile and tRNA Gln genes

作　　者：朱超[1] 刘昱圻[1] 高进辽[1] 杨洁[1] 尹彤[1] 蓝云峰[1] 李宗斌[1] 管敏鑫[2] 李泱[1] 

机构地区：[1]解放军总医院老年心内科,北京100853 [2]浙江大学生命科学学院遗传研究所

出　　处：《中华医学遗传学杂志》2014年第5期619-622,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金青年项目（81100186/H0214）;国家自然科学基金重点项目（81030002）

摘　　要：目的探讨线粒体DNA（mitochondrial DNA，mtDNA）突变与高血压发病之间的关系。方法收集2个具有母系遗传特征的高血压家系的临床资料，分析其临床特征，并进行了全mtDNA序列分析。结果两个家系母系成员表现出不同程度的高血压，其发病年龄在44～55岁之间。家系成员的mtDNA序列分析结果显示，所有的母系成员在tRNA Ile和tRNA Gln基因3’末端存在4329C〉G突变，而在366名正常对照者中未发现此突变。mtDNA4329C位点在各物种中是高度保守的，其与tRNAs氨基酸臂高保真性、功能tRNAs的结构形成和稳定有关。结论tRNA Ile和tRNA Gln 4329C〉G突变与两家系的高血压发病有关，也许还有其他修饰因子的参与。Objective To study the relationship between mitochondrial DNA（mtDNA） mutations and hypertension. Methods Clinical data of two pedigrees with maternally transmitted hypertension was collected. Whole mtDNA sequence was analyzed. Results The family members on the maternal side presented with various levels of hypertension, with the onset age ranging from 44 to 55 years old. Analysis of the mtDNA sequence of the two families members showed all patients have carried a matrilineal 4329C〉 G mutation of the tRNA Ilc and tRNA Gln genes. The same mutation was not found in 366 healthy controls. The 4329C site of mtDNA is highly conserved across species, and has been associated with the fidelity of amino acid accept arm of the tRNAs, as well as functionality and stability in the formation of tRNAs. Conclusion The 4329C 〉 G point mutation in tRNA Ilc and tRNA Gln probably has contributed to the pathogenesis of hypertension, possibly in association with other modifying factors.

关 键 词：线粒体DNA 高血压 突变 TRNA 

分 类 号：R544.1[医药卫生—心血管疾病]