[1]宋净洋,谷晓源,吴亦琦,等.线粒体细胞色素b基因多态性与豫北地区帕金森病的关系[J].新乡医学院学报,2020,37(6):544-547.[doi:10.7683/xxyxyxb.2020.06.009]
　SONG Jingyang,GU Xiaoyuan,WU Yiqi,et al.Relationship between mitochondrial cytochrome b gene polymorphism and Parkinson disease in northern Henan province[J].Journal of Xinxiang Medical University,2020,37(6):544-547.[doi:10.7683/xxyxyxb.2020.06.009]
点击复制

线粒体细胞色素b基因多态性与豫北地区帕金森病的关系
分享到：

《新乡医学院学报》[ISSN:1004-7239/CN:41-1186/R]

卷:
37
期数:
2020年6
页码:
544-547
栏目:
临床研究
出版日期:
2020-06-05

文章信息/Info

Title:
Relationship between mitochondrial cytochrome b gene polymorphism and Parkinson disease in northern Henan province
作者:
宋净洋1; 2; 谷晓源1; 2; 吴亦琦2; 3; 范军林2; 3; 范玲玲2; 3; 王冠玉2; 3; 王小婉2; 3; 邢红霞2; 4; 李超堃2; 3
（1.新乡医学院第一附属医院神经内科，河南　卫辉　453100；2.河南省神经修复重点实验室，河南　卫辉　453100；3.新乡医学院基础医学院生理学与神经生物学教研室，河南　新乡　453003；4.新乡医学院第三附属医院神经内科，河南　新乡　453003）
Author(s):
SONG Jingyang1; 2; GU Xiaoyuan1; 2; WU Yiqi2; 3; FAN Junlin2; 3; FAN Lingling2; 3; WANG Guanyu2; 3; WANG Xiaowan2; 3; XING Hongxia2; 4; LI Chaokun2; 3
(1．Department of Neurology，the First Affiliated Hospital of Xinxiang Medical University，Weihui 453100，Henan Province，China;2．Henan Key Laboratory of Neural Regeneration，Weihui 453100，Henan Province，China;3.Department of Physiology and Neurobiology，Xinxiang Medical University，Xinxiang 453003，Henan Province，China;4.Department of Neurology，the Third Affiliated Hospital of Xinxiang Medical University，Xinxiang 453003，Henan Province，China)
关键词:
帕金森病; 基因多态性; 线粒体; 线粒体细胞色素b
Keywords:
Parkinson disease; gene polymorphism; mitochondria; mitochondrial cytochrome b
分类号:
R742.5
DOI:
10.7683/xxyxyxb.2020.06.009
文献标志码:
A
摘要:
目的　探讨线粒体细胞色素b（MT-CYB）基因多态性与豫北地区帕金森病（PD）的关系。方法　选择2018年3月至2019年12月新乡医学院第一附属医院收治的104例PD患者为研究对象（PD组），另选择同期与PD组性别、年龄相匹配的95例健康体检者为对照组，抽取2组受试者清晨空腹肘静脉血4 mL，按照血液线粒体DNA提取试剂盒说明书提取线粒体DNA，采用MT-CYB基因的特异性引物序列及聚合酶链反应特异性扩增MT-CYB的基因序列，采用DNA测序分析MT-CYB基因变异情况。结果　MT-CYB基因存在m.14784 T＞C位点、m.15043 G＞A位点、m.15301G＞A位点等3个与病变相关联的位点突变，其中PD组患者与对照组受试者m.14784 T＞C位点均存在CC（纯合突变型）、CT（杂合突变型）、TT （野生型）3种基因型，m.15043 G＞A位点均存在AA（纯合突变型）、AG（杂合突变型）、GG（野生型）3种基因型， m.15301G＞A位点均存在AA（纯合突变型）、AG（杂合突变型）、GG（野生型）3种基因型。PD组患者MT-CYB基因m.14784 T>C位点CC基因型频率和C等位基因频率显著高于对照组受试者(P＜0.05），TT基因型频率和T等位基因频率显著低于对照组受试者 (P＜0.05），CT基因型频率与对照组受试者比较差异无统计学意义(P＞0.05）。PD组患者MT-CYB基因m.15043 G>A位点GG基因型频率和G等位基因频率显著高于对照组受试者(P＜0.05），AA基因型频率和A等位基因频率显著低于对照组受试者 (P＜0.05），AG基因型频率与对照组受试者比较差异无统计学意义(P＞0.05）。PD组患者MT-CYB基因m.15301 G>A位点AA基因型频率和A等位基因频率显著高于对照组受试者(P＜0.05），GG基因型频率和G等位基因频率显著低于对照组受试者 (P＜0.05），AG基因型频率与对照组受试者比较差异无统计学意义(P＞0.05）。结论　MT-CYB基因多态性在豫北地区PD发病中具有重要作用，MT-CYB基因m.14784 T＞C、m.15043 G＞A、m.15301G＞A多态性可能与豫北地区PD的发生、发展相关。
Abstract:
Objective　To investigate the relationship between mitochondrial cytochrome b (MT-CYB) gene poly-morphism and Parkinson disease (PD) in northern Henan province.Methods　A total of 104 PD patients admitted to the First Affiliated Hospital of Xinxiang Medical University from March 2018 to December 2019 were selected as the subject（PD group）,and 95 healthy people who matched the gender and age of the PD group during the same period were selected as the control group.The 4 mL fasting cubit venous blood was extracted from the subjects in two groups in the morning,and mitochondrial DNA was extracted according to the instructions of the mitochondrial DNA extraction kit.The specific primer sequence of MT-CYB gene and polymerase chain reaction were used to specifically amplify MT-CYB gene sequence,the variation of MT-CYB gene was analyzed by DNA sequencing.Results　The MT-CYB gene has m.14784 T>C,m.15043 G>A,m.15301G>A site mutation associated with pathological changes.There were 3 genotypes of CC (homozygous mutant type),CT (heterozygous mutant type) and TT (wild type) in all subjects at m.14784 T>C site;there were 3 genotypes of AA (homozygous mutant type),AG (heterozygous mutant type),GG (wild type) in all subjects at m.15043 G>A site;there were 3 genotypes of AA (homozygous mutant type),AG (heterozygous mutant type),GG (wild type) in all subjects at m.15301G>A site.In the PD group,the frequency of CC genotype frequency and C allele frequency at m.14784 T> C site of MT-CYB gene was significantly higher than that in the control group(P＜0.05),the frequency of TT genotype frequency and T allele frequency was significantly lower than that in the control group (P＜0.05),there was no statistically significant difference in the CT genotype frequency between the PD group and the control group (P>0.05).In the PD group,the frequency of GG genotype frequency and G allele frequency at m.15043 G> A site of MT-CYB gene was significantly higher than that in between the PD group and control group (P＜0.05),the frequency of AA genotype frequency and A allele frequency was significantly lower than that in between the PD group and control group (P＜0.05) .There was no significant difference in the AG genotype frequency between the PD group and the control group (P>0.05) .In the PD group,the frequency of AA genotype frequency and A allele frequency at m.15301G>A site of MT-CYB gene was significantly higher than that in control group(P＜0.05),the frequency of GG genotype frequency and G allele frequency was significantly lower than that in control group (P＜0.05).There was no significant difference in the AG genotype frequency between the PD group and the control group (P>0.05) .Conclusion　MT-CYB gene polymorphism plays an important role in the pathogenesis of PD in northern Henan.The m.14784 T>C,m.15043 G>A and m.15301G>A polymorphism in MT-CYB gene may be related to the occurrence and development of PD in northern Henan province.

参考文献/References:

［1］　SURMEIER D J，SCHUMACKER P T，GUZMAN J D，et al.Calcium and Parkinson′s disease［J］.Biochem Biophys Res Commun，2017，483(4):1013-1019.
［2］　PANG S Y，HO P W，LIU H F，et al.The interplay of aging，genetics and environmental factors in the pathogenesis of Parkinson′s disease［J］.Transl Neurodegener，2019，8(1):23.
［3］　AMMAL KAIDERY N，THOMAS B.Current perspective of mitochondrial biology in Parkinson′s disease［J］.Neurochem Int，2018，117:91-113.
［4］　BATTOGTOKH G，CHOI Y S，KANG D S，et al.Mitochondria-targeting drug conjugates for cytotoxic，anti-oxidizing and sensing purposes：current strategies and future perspectives［J］.Acta Pharm Sin B，2018，8(6)：862-880.
［5］　PARMAR H S，HOUDEK Z，PESTA M，et al.Protective Effect of aspirin against oligomeric Aβ42 induced mitochondrial alterations and neurotoxicity in differentiated EC P19 neuronal cells［J］.Curr Alzheimer Res，2017，14(8)：810-819.
［6］　TOURE S，MBAYE F，GUEYE M D，et al.Somatic mitochondrial mutations in oral cavity cancers among senegalese patients［J］.Asian Pac J Cancer Prev，2019，20(7)：2203-2208.
［7］　WADE F B，SALL M P，MBAYE F，et al.Mitochondrial DNA mutations and rheumatic heart diseases［J］.J Cardiovasc Dev Dis，2019，6(4)：36.
［8］　JANCIC J，ROVCANIN B，DJURIC V，et al.Analysis of secondary mtDNA mutations in families with Leber′s hereditary optic neuropathy：four novel variants and their association with clinical presentation［J］.Mitochondrion，2019，50(1)：132-138.
［9］　SHUVO S R，WIENS L M，SUBRAMANIAM S，et al.Increased reactive oxygen species production and maintenance of membrane potential in VDAC-less Neurospora crassa mitochondria［J］.J Bioenerg Biomembr，2019，51(5)：341-354.
［10］　LEE K，HADDAD A，OSME A，et al.Hepatic mitochondrial defects in a nonalcoholic fatty liver disease mouse model are associated with increased degradation of oxidative phosphorylation subunits［J］.Mol Cell Proteomics，2018，17(12)：2371-2386.
［11］　POSTUMA R B，BERG D，STERN M，et al.MDS clinical diagnostic criteria for Parkinson′s disease［J］.Mov Disord，2015，30(12):1591-1601.
［12］　CACABELOS R.Parkinson′s disease：from pathogenesis to pharmacogenomics［J］.Int J Mol Sci，2017，18(3)：551.
［13］　BEACH T G，ADLER C H.Importance of low diagnostic accuracy for early Parkinson′s disease［J］.Mov Disord，2018，33(10)：1551-1554.
［14］　LIU S M，LI X Z，ZHANG S N，et al.Acanthopanax senticosus protects structure and function of mesencephalic mitochondria in a mouse model of Parkinson′s disease［J］.Chin J Integr Med，2018，24(11)：835-843.
［15］　ISLAM M T.Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders［J］.Neurol Res，2017，39(1)：73-82.
［16］　SEDDIGH S，DARABI M.Functional，structural，and phylogenetic analysis of mitochondrial cytochrome b (cytb) in insects［J］.Mitochondrial DNA A DNA Mapp Seq Anal，2018，29(2)：236-249.
［17］　IOMMARINI L，GHELLI A，LEONE G，et al.Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G>A mutation in cytochrome B gene［J］.Hum Mutat，2018，39(1)：92-102.
［18］　WALLACE L S，MEHRABI S，BACANAMWO M，et al.Expression of mitochondrial genes MT-ND1，MT-ND6，MT-CYB，MT-COI，MT-ATP6，and 12S/MT-RNR1 in colorectal adenopolyps［J］.Tumour Biol，2016，37(9)：12465-12475.
［19］　DASGUPTA S，HOQUE M O，UPADHYAY S，et al.Mitochondrial cytochrome B gene mutation promotes tumor growth in bladder cancer［J］.Cancer Res，2008，68(3)：700-706.

相似文献/References:

[1]廖　娜,张合喜.幽门螺杆菌及宿主基因特征与胃肠疾病关系[J].新乡医学院学报,2006,23(05):533.
[2]马琪林,鲁丛霞,蔡琰,等.帕金森病患者血小板线粒体谷氨酸载体和复合物活性研究 [J].新乡医学院学报,2007,24(02):114.
[3]郭娟宁,千新来,樊爱英,等.肿瘤坏死因子受体基因多态性与扩张型心肌病遗传易感性的关系[J].新乡医学院学报,2009,26(02):150.
　GUO Juan-ning,QIAN Xin-lai,FAN Ai-ying,et al.Association of the tumor necrosis factor receptor gene polymorphisms with the genetic susceptibility to dilated cardiomyopathy[J].Journal of Xinxiang Medical University,2009,26(6):150.
[4]李艳,黄新恩,陈颖波,等.XPD751和XRCC1399联合基因型与非小细胞肺癌化疗毒性的关系[J].新乡医学院学报,2010,27(03):230.
[5]洪丽,李珂,闫晓海,等.瞬目反射与肛门括约肌肌电图对帕金森病患者病情分期判定的意义[J].新乡医学院学报,2012,29(12):936.
[6]朱丰霞,常海敏,段 瑛,等.人参皂苷 Rg1对帕金森病小鼠黑质中酪氨酸羟化酶及ephrinB2和磷酸化 c-Jun表达的影响[J].新乡医学院学报,2014,31(10):781.[doi:10.7683/xxyxyxb.2014.10.003]
[7]魏家彬,杨　帆,王淑秀.人参皂苷Ｒｇ１对１甲基４苯基１，２，３，６四氢吡啶诱导的帕金森病小鼠黑质酪氨酸蛋白激酶Ａ４表达的影响[J].新乡医学院学报,2015,32(05):404.
[8]宫艳艳,王莉,陈苗,等.亚甲基四氢叶酸还原酶基因多态性与原因不明复发性流产的关系[J].新乡医学院学报,2022,39(12):1134.[doi:10.7683/xxyxyxb.2022.12.006]
　GONG Yanyan,WANG Li,CHEN Miao,et al.Relationship between methylene tetrahydrofolate reductase gene polymorphism and unexplained recurrent spontaneous abortion[J].Journal of Xinxiang Medical University,2022,39(6):1134.[doi:10.7683/xxyxyxb.2022.12.006]
[9]李　乐,黄志勇,贺文麟.血浆同型半胱氨酸、催乳素水平与帕金森病及帕金森病痴呆相关性分析[J].新乡医学院学报,2015,32(05):438.
[10]杜濛濛,金春燕,顾志萍.孕妇叶酸代谢关键基因位点多态性与早产的关系[J].新乡医学院学报,2022,39(12):1168.[doi:10.7683/xxyxyxb.2022.12.013]
　DU Mengmeng,JIN Chunyan,GU Zhiping.Relationship between polymorphism of key gene locus of folic acid metabolism and premature delivery in pregnant women[J].Journal of Xinxiang Medical University,2022,39(6):1168.[doi:10.7683/xxyxyxb.2022.12.013]
[11]谷晓源,车祥源,马　静,等.过氧化物酶体增殖物激活受体γ辅激活剂-1α rs2946385基因多态性与帕金森病的相关性[J].新乡医学院学报,2021,38(9):822.[doi:10.7683/xxyxyxb.2021.09.005]
　GU Xiaoyuan,CHE Xiangyuan,MA Jing,et al.Correlation between peroxisome proliferator-activated receptor γ coactivator 1α rs2946385 gene polymorphism and Parkinson′s disease[J].Journal of Xinxiang Medical University,2021,38(6):822.[doi:10.7683/xxyxyxb.2021.09.005]

更新日期/Last Update: 2020-06-05