线粒体tRNA^(Lys)基因上A8343G点突变与肾上腺源性高血压的关系研究

Point Mutation of A8343G in Mitochondrial tRNA^(Lys) Gene and Adrenal-Derived Hypertension

目的探讨肾上腺源性高血压(ADH)的线粒体遗传背景,为临床诊治ADH提出新途径。方法随机选取2006年1月—2009年1月中国人民解放军总医院内分泌科门诊或住院的ADH患者15例(试验组),进行临床资料采集、内分泌检查及线粒体扫描分析。另选取19例年龄、性别与试验组匹配的健康体检者作为对照组。分析校正临床因素的影响后ADH患者与正常人群线粒体的表达差异。结果 (1)两组受试者的血糖、血脂水平间差异无统计学意义(P>0.05)。(2)2例ADH患者(1例促肾上腺皮质激素依赖性肾上腺大结节增生,1例17α-羟化酶缺乏症)的线粒体tRNALys基因A8343G突变(属于单倍型H),而对照组中未发现本突变。结论线粒体tRNALys基因A8343G突变可能参与了ADH的病理生理过程。

Objective To investigate the role of mitochondrial genes in the pathogenesis of adrenal-derived hypertension（ADH） with the hope to explore new approaches to diagnosis and treatment.Methods Clinical data of 15 randomly enrolled outpatients or inpatients with ADH in our hospital between Jan 2006 and Jan 2009 were collected together with the results from endocrine examination and mitochondrial genetic analysis for tRNA genes.On the other hand,19 age and gender matched healthy subjects were used as controls.Results Levels of blood glucose and blood lipids were not significantly different between the two groups（P0.05）.Point mutation of A8343G in mitochondrial tRNALys Gene were noted in two cases from the ADH group（one with ACTH-dependent macronodular adrenal hyperplasia and the other with 17α-hydroxylase deficiency） and in no case from the control group.Conclusion The findings suggest that A8343G mutation in mitochondrial tRNALys gene may have biologic plausibility to implicate in the pathogenesis of ADH.