Introduction:Myocardial ischemia-reperfusion(IR)injury has received widespread attention due to its damaging effects.Electroacupuncture(EA)pretreatment has preventive effects on myocardial IR injury.SLC26A4 is a Na+independent anion reverse transporter and has not been reported in myocardial IR injury.Objectives:Tofind potential genes that may be regulated by EA and explore the role of this gene in myocardial IR injury.Methods:RNA sequencing and bioinformatics analysis were performed to obtain the differentially expressed genes in the myocardial tissue of IR rats with EA pretreatment.Myocardial infarction size was detected by TTC staining.Serum CK,creatinine kinase-myocardial band,Cardiac troponin I,and lactate dehydrogenase levels were determined by ELISA.The effect of SLC26A4 on cardiomyocyte apoptosis was explored by TUNEL staining and western blotting.The effects of SLC26A4 on inflammation were determined by HE staining,ELISA,and real-time PCR.The effect of SLC26A4 on the NF-κB pathway was determined by western blotting.Results:SLC26A4 was up-regulated in IR rats but downregulated in IR rats with EA pretreatment.Compared with IR rats,those with SLC26A4 knockdown exhibited improved cardiac function according to decreased myocardial infarction size,reduced serum LDH/CK/CK-MB/cTnI levels,and elevated left ventricular ejection fraction and fractional shortening.SLC26A4 silencing inhibited myocardial inflammation,cell apoptosis,phosphorylation,and nuclear translocation of NF-κB p65.Conclusion:SLC26A4 exhibited promoting effects on myocardial IR injury,while the SLC26A4 knockdown had an inhibitory effect on the NF-κB pathway.These results further unveil the role of SLC26A4 in IR injury.
FEI KONGQIYUAN TIANBINGLIN KUANGLILI SHANGXIAOXIAO ZHANGDONGYANG LIYING KONG
目的分析1001例宁夏地区婚检孕前门诊就诊女性耳聋基因筛查结果。方法选取2019年1月—2021年12月于银川市妇幼保健院婚检孕前门诊就诊的1001例女性作为研究对象,在知情同意的原则下,应用耳聋基因微阵列芯片法对4个常见耳聋基因的15个热点突变位点进行筛查,对携带耳聋基因突变位点的女性配偶进行同一基因全长测序,并对耳聋基因高风险胎儿进行产前诊断。结果1001例耳聋基因检测女性中,62例检测到耳聋基因突变,突变携带率为6.19%,其中GJB2、SLC26A4、GJB3、线粒体12S rRNA、多杂合基因突变携带率分别为2.60%、2.40%、0.40%、0.30%、0.50%。GJB2基因突变26例,占携带者的41.94%;GJB3基因突变4例,占携带者的6.45%;SLC26A4基因突变24例,占携带者的38.71%;线粒体12S rRNA基因突变3例,占携带者的4.84%。299-300 del AT/1975 G>C杂合1例,占携带者的1.61%;176 del 16/IVS7-2A>G杂合1例,占携带者的1.61%;235 del C/538 C>T杂合1例,占携带者的1.61%;235 del C/1975 G>C杂合1例,占携带者的1.61%;2168 A>G/235 del C杂合1例,占携带者的1.61%。配偶行同一基因全长测序,对双方携带同一基因突变的夫妇,遗传咨询后行产前诊断,新生儿听力初筛双耳均通过,继续进行听力随访。结论耳聋基因突变在人群中有较高的携带率,婚检孕前门诊有必要告知患者进行耳聋基因筛查,对检测出的阳性患者及时给予正确解释及遗传咨询,可以明确遗传学病因,为该家庭的生育计划进行风险评估并给予孕育意见,尽可能地杜绝耳聋患儿的出生,降低出生缺陷发生率。
