线粒体DNA点突变有关的中国大家族母系遗传性高血压研究

Maternally inherited hypertension is associated with mitochondrial DNA point mutation in a large Chinese family

摘要:

目的 研究具有母系遗传性特点的原发性高血压中国大家系临床与遗传学特点。方法 对入选的1865例原发性高血压患者进行线粒体DNA测序分析，发现线粒体DNA点突变，对其进行家系随访，收集该家系成员临床资料进行分析，分析其遗传学特点。结果 该家系中母系成员高血压患病率高达55.6%，非母系成员高血压患病率15.6%（P＜0.01）；母系成员高血压发病年龄有提前的趋势[Ⅱ代（62.0±6.2）岁；Ⅲ代（46.3±5.8）岁；Ⅳ代（23.3±2.9）岁]母系成员血糖、总胆固醇、血钠明显高于非母系成员（P＜0.05），而超声结果没有明显差异；遗传学分析发现母亲患病子代发病率明显高于父亲患病者（P＜0.05），男女发病率没有差异（P＞0.05）；结论 该家系母系成员高血压发病率明显高于非母系成员，该家系符母系遗传特点，高血压发病与线粒体DNA突变有关，提示线粒体DNA突变可能与母系遗传性高血压发病有关，在高血压发病中发挥重要作用。

Abstract:

Objective To investigate the clinical and genetic characteristics of a large Chinese family with maternally inherited hypertension. Methods The mitochondrial DNA point mutation was detected by sequence analysis in 1865 patients with essential hypertension. Then the families were followed up, and the clinical data were collected for statistical analysis. Results The morbidity of hypertension in the maternal members was up to 55.6%, while that of the non-maternal members was only 15.6% (P＜0.01). The onset age of hypertension tended to be younger [from (62.0±6.2) years old for the second generation, (46.3±5.8) years old for the third generation, and to (23.3±2.9) years old for the forth generation]. The serum levels of blood glucose, total cholesterol and sodium in maternal members were significantly higher than those of non-maternal members (P＜0.05). The results of echocardiogram had no difference between the maternal and non-maternal groups. Genetic analysis of this family showed that the morbidity of hypertension offspring of affected mother was higher than those of affected father (P＜0.05), but no difference was seen between male and female members with hypertension (P＞0.05). Conclusion The morbidity of hypertension is higher in maternal members than in non-maternal members. Genetic analysis shows that it is a family with maternally inherited hypertension, which may be related with mitochondrial DNA point mutation. Our findings suggest that mitochondrial DNA mutation may be associated with maternally inherited hypertension, and play an important role in the incidence of hypertension.