盐敏感性高血压胰岛素受体β亚单位基因突变

Point mutations of βinsulin receptor gene in salt sensitive hypertension

目的 观察盐敏感性高血压患者是否存在胰岛素抵抗现象及其与胰岛素受体基因第 17,2 0显子突变的关系 .方法 以高血压家系成员为观察对象 ,用静脉盐水负荷和速尿利尿利钠相结合的方法确定盐敏感者 ,以胰岛素敏感指数判断胰岛素抗性 ,用 PCR- SSCP方法检测胰岛素受体基因突变 .结果 高血压家系中 ,无论高血压患者还是血压正常个体 ,盐敏感者空腹及糖负荷试验各时点的血糖值、胰岛素释放试验各时点血胰岛素水平均大于盐不敏感者 (P<0 .0 5或 P <0 .0 1) ;而胰岛素敏感指数小于盐不敏感者 (高血压组 :0 .0 11± 0 .0 0 4vs0 .0 16± 0 .0 0 5 ,P<0 .0 1;血压正常者 :0 .0 13±0 .0 0 3vs 0 .0 18± 0 .0 0 3,P<0 .0 5 ) .在所有观察对象中 ,未发现胰岛素受体第 17,2 0外显子存在突变 .结论 盐敏感性高血压患者存在胰岛素抵抗现象 ,其胰岛素受体基因第 17,2

AIM To investigate the relationship between insulin resistance and the mutations of exon 17, 20 of insulin receptor gene in hypertensives with salt sensitivity. METHODS Based on our previ ous studies, 238 members in 5 pedigrees were recruited. Venin sodium load and fu rosemide sodium volume depletion were employed to determine the salt sensitivity (SS or NSS). Glucose tolerane test (OGTT), insulin realease test (InsRT) were performed to determine insulin resitance and PCR-SSCP analysis technique was used to indentify point mutations of the insulin receptor gene. RESULTS Compared with NSS, the plasm glucose and insulin concentration at each time point during OGTT and InsRT were much higher (P<0.05 or P<0.01), insulin senstive indexes were much lower in SS (HBP: 0.011±0.004 vs 0.016±0.005, P<0.01; NBP: 0.014±0.003 vs 0.019± 0.003, P<0.05). No mutation of the exon 17, 2 0 of the insulin receptor gene was found in all subjects. CONCLUSION Insulin resistance may play an important role in the pathogenesis of salt sensitive hypertension, but the mutation of the exon17, 20 of the insulin recept or gene rarely occurs to hypetents with salt sensitivity.