精子线粒体DNA ATP6、ATP8和COX3突变与弱精症的关系  

Correlation analysis between asthenozoospermia and mutitations of mitochondrial DNA ATP6,ATP8 and COX3

作　　者：陈孟权[1] 单婷婷[1] 林春春 孔万仲[1] CHEN Mengquan;SHAN Tingting;LIN Chunchun;KONG Wanzhong(Department of Clinical Laboratory,Wenzhou Hospital of Traditional Chinese Medicine,Wenzhou 325000,China)

机构地区：[1]温州市中医院检验科,325000

出　　处：《浙江医学》2023年第21期2260-2263,2273,共5页Zhejiang Medical Journal

基　　金：温州市科研项目(Y20210741)。

摘　　要：目的探讨精子线粒体DNA(mtDNA)ATP6、ATP8和COX3突变与弱精症的关系。方法选取2019年7月至2021年3月在温州市中医院就诊的134例弱精症患者为弱精症组,同期其他原因就诊的129例精液常规检查结果正常的患者为对照组。比较两组患者精液常规检查结果和精子基因组测序结果,分析两组患者精子mtDNA基因突变情况。结果弱精症组精子总活力和精子浓度均明显低于对照组(均P<0.05)。弱精症组、对照组精子中分别发现86、87个突变位点,突变类型均以同义突变、错义突变为主,两组患者突变类型、突变区域比较,差异均无统计学意义(均P>0.05)。突变发生率>5%的突变位点共有15个,其中ATP6、ATP8、COX3区域分别有8、1、6个,错义突变、同义突变、移码突变分别有8、6、1个。A8962C、AT9934A在弱精症组中的发生率明显高于对照组(均P<0.05),而A8812T在对照组中的发生率明显高于弱精症组(P<0.05)。结论精子mtDNA ATP6、ATP8和COX3突变与弱精症存在一定的关系,其中A8962C、AT9934A突变与弱精症的发生有关,而A8812T突变可能对精子活力起保护作用。Objective To investigate the correlation between asthenospermia and mutations of sperm mitochondrial DNA(mtDNA)ATP6,ATP8 and COX3.Methods A total of 134 patients with asthenospermia from July 2019 to March 2021 in Wenzhou Hospital of Traditional Chinese Medicine were selected as asthenospermia group,and 129 patients with normal semen routine examination results during the same period were selected as the control group.The semen routine examination results and sperm cell gene sequencing results of the two groups were compared,and the mtDNA mutations of sperm cells in both groups were analyzed.Results The total motility and concentration of semens in the asthenozoo-spermia group were significantly lower than those in the control group(both P<0.05).A total of 86 mutation sites were found in sperm cells of the asthenozoospermia group,and 87 mutation sites were found in sperm cells of the control group.The predominant mutation types in both groups were synonymous mutations and missense mutations.There were no significant differences in mutation types or mutation regions between the two groups(both P>0.05).There were 15 mutation sites with a mutation occurrence rate of>5%,including eight in the ATP6 region,one in the ATP8 region,and six in the COX3 region.Among them,there were eight missense mutations,six synonymous mutations,and one frameshift mutation.The occurrence rates of A8962C and AT9934A were significantly higher in the asthenozoospermia group than in the control group(both P<0.05),while the occurrence rate of A8812T was significantly higher in the control group than in the asthenozoospermia group(P<0.05).Conclusion Sperm mtDNA mutations in the ATP6,ATP8 and COX3 genes are associated with asthenospermia,among which,the A8962C and AT9934A mutations are related to the occurrence of azoospermia,while the A8812T mutation may play a protective role in sperm motility.

关 键 词：弱精症 精子 线粒体DNA 突变分析 关系 

分 类 号：R698.2[医药卫生—泌尿科学]