CAJ | 학술논문

目的研究单侧肾上腺增生性原发性醛固酮增多症KCNJ5基因错义突变的情况和意义.方法收集手术切除并经病理诊断证实的单侧肾上腺增生组织14例,同时收集患者外周血样本,对所有样本的KCNJ5基因编码区进行测序,并预测其蛋白质结构和功能.结果在14例单侧肾上腺增生组织中发现了3种错义突变:c.451G＞C/A(p.G151R) (2/14)、c.503T＞G(p.L168R) (1/14)、c.830T＞A(p.S209T) (9/14),其中c.830T＞A为新发现的突变.蛋白结构预测显示L168R位于第二跨膜区,后者为保守区;S209位于胞内区,且S209为蛋白激酶(PKC)的磷酸化位点.结论 KCNJ5基因突变与单侧肾上腺增生性原发性醛固酮增多症有关.蛋白质结构预测提示突变可能参与了单侧肾上腺增生的发生和发展.
목적 연구단측신상선증생성원발성철고동증다증KCNJ5기인착의돌변적정황화의의.방법 수집수술절제병경병리진단증실적단측신상선증생조직14례,동시수집환자외주혈양본,대소유양본적KCNJ5기인편마구진행측서,병예측기단백질결구화공능.결과 재14례단측신상선증생조직중발현료3충착의돌변:c.451G＞C/A(p.G151R) (2/14)、c.503T＞G(p.L168R) (1/14)、c.830T＞A(p.S209T) (9/14),기중c.830T＞A위신발현적돌변.단백결구예측현시L168R위우제이과막구,후자위보수구;S209위우포내구,차S209위단백격매(PKC)적린산화위점.결론 KCNJ5기인돌변여단측신상선증생성원발성철고동증다증유관.단백질결구예측제시돌변가능삼여료단측신상선증생적발생화발전.
Objective To investigate the prevalence of KCNJ5 gene missense mutations and their role in patients with unilateral adrenal hyperplasia (UAH).Methods Fourteen UAH tissues were collected through surgical resection,and all the tissues were confirmed by pathology.Peripheral blood samples of the same patients were collected as control.The coding regions of the KCNJ5 were detected by direct DNA sequencing.Protein structure and function were predicted with specific software.Results Three missense mutations were detected among the 14 patients with UAH,which included c.451G＞C/A (p.G151R) (2/14),c.503T＞G (p.L168R) (1/14),c.830T＞A (p.S209T) (9/14).Among these,c.830T＞A is a newly identified somatic mutation.Protein structure prediction showed that S209T lied in the second transmembrane domain,a conservation region of KCNJ5.S209 was also the phosphorylation site of PKC that is located in intracellular area.Conclusion Missense mutations of KCNJ5 gene may be associated with UAH.Protein structure prediction has suggested that KCNJ5 mutations may be associated with UAH.