线粒体单体型与线粒体相关的人类疾病
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摘要
线粒体是一种拥有自身遗传体系的半自主细胞器,它的遗传物质线粒体DNA(mitochondrial DNA,mt DNA)随着人类的迁移、隔离、进化而形成了广泛的线粒体基因组多态性,同一祖先所具有的一些相同mt DNA SNP位点的集合称为线粒体单体型.不同的线粒体单体型会在一定程度上影响线粒体功能,从而影响整个细胞的生长,并在某些情况下导致一些个体的病变,例如Leber遗传性视神经病变、母系遗传性耳聋、Ⅱ型糖尿病、帕金森以及各种癌症等复杂疾病.本文列举总结了几种线粒体相关疾病及其与线粒体单体型如A、B、D、F、G、H、J、K、M、N、T、U、Y及一些有特点的多态位点如G11778A、A1555G、T3394C、G10398A等的相关性.
Mitochondrion is semi-autonomous organelle with genetic system. Through migration, isolation and evolution of human, mitochondrial DNA(mt DNA) formed a wide range of mitochondrial genome polymorphisms.Mitochondrial haplotype is referred to as the set of the same mt DNA SNP loci from a common ancestor. Different mitochondrial haplotypes affect the mitochondrial function to a certain extent, thus affecting the growth of cell,leading to diseases of individuals, such as Leber's hereditary optic neuropathy, maternally inherited deafness,type Ⅱ diabetes, Parkinson disease and cancer. This review summarized several mitochondrial diseases related to mitochondrial haplotypes(A, B, D, F, G, H, J, K, M, N, R, T, U, Y,etc.) and some special mitochondrial polymorphic sites(G11778A, A1555 G, T3394 C, G10398 A, etc.).
Mitochondrion is semi-autonomous organelle with genetic system. Through migration, isolation and evolution of human, mitochondrial DNA(mt DNA) formed a wide range of mitochondrial genome polymorphisms.Mitochondrial haplotype is referred to as the set of the same mt DNA SNP loci from a common ancestor. Different mitochondrial haplotypes affect the mitochondrial function to a certain extent, thus affecting the growth of cell,leading to diseases of individuals, such as Leber's hereditary optic neuropathy, maternally inherited deafness,type Ⅱ diabetes, Parkinson disease and cancer. This review summarized several mitochondrial diseases related to mitochondrial haplotypes(A, B, D, F, G, H, J, K, M, N, R, T, U, Y,etc.) and some special mitochondrial polymorphic sites(G11778A, A1555 G, T3394 C, G10398 A, etc.).
引文
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[2]van Oven M,Kayser M.Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation.Hum Mutat,2009,30(2):386-394
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[6]Niemi A K,Majamaa K.Mitochondrial DNA and ACTN3genotypes in Finnish elite endurance and sprint athletes.Eur J Hum Genet,2005,13(8):965-969
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[19]FinnilS,Autere J,Lehtovirta M,et al.Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in t RNAGln.J Med Genet,2001,38(6):400-405
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[25]韩睿,普玲,董霞,等.云南汉族人群线粒体DNA12026、16189突变位点与家族性2型糖尿病的相关性研究.中国综合临床,2015,31(9):777-781Han R,Pu L,Dong X,et al.Clinical Med China,2015,31(9):777-781
[26]Fuku N,Park K S,Yamada Y,et al.Mitochondrial Haplogroup N9a Confers Resistance against Type 2 diabetes in Asians.American Journal of Human Genetics,2007,80(3):407-415
[27]李伟,沈飞霞,刘晓婷,等.线粒体单体型与2型糖尿病的发病风险的关联性研究[R].2010中国青年遗传学家论坛论文摘要汇编Study on the relationship between mitochondrial haplotype and the risk of type 2 diabetes mellitus,Genetics and Social Sustainable Development-the Colletion of the 2010 Chinese Youth Geneticist Forum’s Article Abstracts
[28]Hwang S,Kwak S H,Bhak J,et al.Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2diabetes-associated mitochondrial DNA haplogroups.Plos One,2011,6(7):e22116-e22116
[29]Bai R K,Leal S M,Covarrubias D,et al.Mitochondrial genetic background modifies breast cancer risk.Cancer Res,2007,67(10):4687-4694
[30]Fang HZ,Shen LJ,Chen T,et al.Cancer type-specific modulation of mitochondrial haplogroups in breast,colorectal and thyroid cancer.BMC Cancer,2010,10:421
[31]Grzybowska-szatkowska L,Slaska B.Polymorphisms in genes encoding mt-t RNA in female breast cancer in Poland.Mitochondrial DNA,2012,23(2):106-111
[32]Tipirisetti N R,Rao K L,Govatati S,et al.Mitochondrial genome variations in advanced stage breast cancer:A case-control study.Mitochondrion,2013,13(4):372-378
[33]Blein S,Bardel C,Danjean V,et al.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.Breast Cancer Research,2015,17(1):1-15
[34]Li X Y,Guo Y B,Su M,et al.Association of mitochondrial haplogroup D and risk of esophageal cancer in Taihang Mountain and Chaoshan areas in China.Mitochondrion,2011,11(1):27-32
[35]Wei L,Zhao Y,Guo T K,et al.Association of mt DNA D-Loop polymorphisms with risk of gastric cancer in Chinese population.Pathol Oncol Res,2011,17(3):735-742
[36]Jandova J,Shi M,Norman K G,et al.Somatic alterations in mitochondrial DNA produce changes in cell growth and metabolism supporting a tumorigenic phenotype.Biochim Biophys Acta,2012,1822(2):293-300
[37]Jandova K,Eshaghian A,Shi M,et al.Identification of a mt DNA mutation hotspot in UV-induced mouse skin tumors producing altered cellular biochemistry.Journal of Invest Derm,2012,132(2):421-428.
[38]Kirchner S C,Hallagan S E,Farin F M,et al.Mitochondrial ND1sequence analysis and association of the T4216C mutation with Parkinson’s disease.Neurotoxicology,2000,21(4):441-445
[39]van der Walt J M,Nicodemus K K,Martin E R,et al.Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.Am J Hum Genet,2003,72(4):804-811
[40]Shigeru T.Mitochondrial haplogroups associated with Japanese centenarians,Alzheimer’s patients,Parkinson’s patients,type 2diabetic patients and healthy non-obese young males.J Genet Genomics,2009,36(7):425-434
[41]Chen Y F,Chen W J,Lin X Z,et al.Mitochondrial DNA haplogroups and the risk of sporadic parkinson’s disease in han Chinese.Chin Med J(Engl),2015,128(13):1748-1754
[42]Liou C W,Chuang J H,Chen J B,et al.Mitochondrial DNA variants as genetic risk factors for Parkinson Disease.Eur J Neurol,2016,0:1-12
[43]Ruiz-Pesini E,Lapea A C,Díez-Sánchez C,et al.Human mt DNA haplogroups associated with high or reduced spermatozoa motility.Am J Hum Genet,2000,67(3):682-696
[44]Castro M G,Huerta C,Reguero J R,et al.Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.Int J Cardiol,2006,112(2):202-206
[45]Tanaka M,Fuku N,Nishigaki Y,et al.Women with mitochondrial haplogroup N9a are protected against metabolic syndrome.Diabetes,2007,56(2):518-521
[46]Govatati S,Tipirisetti N R,Perugu S,et al.Mitochondrial genome variations in advanced stage endometriosis:a study in south indian population.PLo S One,2012,7(7):372-378
[47]Zifa E,Daniil Z,Skoumi E,et al.Mitochondrial genetic background plays a role in increasing risk to asthma.Mol Biol Rep,2012,39(4):4697-4708
[2]van Oven M,Kayser M.Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation.Hum Mutat,2009,30(2):386-394
[3]MITOMAP.A Human Mitochondrial Database.http://www.mitomap.org.2016
[4]Kivisild T,Shen P,Wall DP,et al.The role of selection in the evolution of human mitochondrial genomes.Genetics,2006,172(1):373-387
[6]Niemi A K,Majamaa K.Mitochondrial DNA and ACTN3genotypes in Finnish elite endurance and sprint athletes.Eur J Hum Genet,2005,13(8):965-969
[7]Bradford G,Hill,Gloria A,et al.Integration of cellular bioenergetics with mitochondrial quality control and autophagy.Biol Chem,2012,393(12):1485-1512
[8]Burgstaller J P,Johnston I G,Poulton J.Mitochondrial DNA disease and developmental implications for reproductive strategies.Molecular Human Reproduction,2015,21(1):11-22
[9]张阿妹,姚永刚.Leber遗传性视神经病变研究进展和挑战.遗传,2013,35(2):123-135Zhang A M,Yao Y G.Genetic,2013,35(2):123-135
[10]Ji Y C,Liang M,Zhang J J,et al.Mitochondrial ND1 Variants in1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.Invest Ophthalmol Vis Sci,2016,57(6):2377-2389
[11]Torrini A,Petrozzi M,D'Urbano L,et al.Tropean-specific mt DNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations11778 and 14484.Am J Hum Genet,1997,60(50):1107-1121
[12]Carelli V,Achilli A,Valentino M L,et al.Haplogroup effects and recombination of mitochondrial DNA:novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.Am J Hum Genet,2006,78(4):564-574
[13]Hudson G,Carelli V,Spruijt L,et al.Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.Am J Hum Genet,2007,81(2):228-233
[14]Ji Y,Zhang A M,Jia X,et al.Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation.Am J Hum Genet,2008,83(6):760-768
[15]Yan C J,Min L,Zhang J J,et al.Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.Journal of human genetics,2014,59(3):134-140
[16]孟祥娟,朱金萍,高敏,等.中国人群携带m.14484T>C突变的Leber's遗传性视神经病变线粒体单体型及多态位点分析.遗传,2014,36(4):336-345Meng X J,Zhu J P,Gao M,et al.Hereditas,2014,36(4):336-345
[17]Guan M X,Zhao L D.Mitochondrial DNA mutations associated with aminoglycoside ototoxicity.Chinese Journal of Otology,2006,4(2):98-105
[18]杨爱芬,郑静,吕建新,等.修饰因子对线粒体DNA突变致聋的影响.中华医学遗传学杂志,2011,28(2):165-171Yang A F,Zheng J,LüJ X,et al.Chin J Med Genet,2011,28(2):165-171
[19]FinnilS,Autere J,Lehtovirta M,et al.Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in t RNAGln.J Med Genet,2001,38(6):400-405
[20]Lu J,Qian Y,Li Z,et al.Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S r RNA1555A>G mutation.Mitochondrion.2010,10(1):69-81
[21]Kato T,Fuku N,Noguchi Y,et al.Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population.Acta Oto-Laryngologica,2012,132(11):1178-1182
[22]Ying Z B,Zheng J,Cai Z Y,et al.Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S r RNA 1555A>G mutation.Protein Cell2015,6(11):844-848
[23]Park S H,Lindholm B.Definition of metabolic syndrome in peritoneal dialysis.Perit Dial Int,2009,29(Suppl 2):137-144
[24]赵青,张丽容.线粒体DNA的ND-1基因T3394C突变与糖尿病的关系.中华医学遗传学杂志,2001,18(3):229-230Zhao Q,Zhang L R,Chinese J Med Genet,2001,18(3):229-230
[25]韩睿,普玲,董霞,等.云南汉族人群线粒体DNA12026、16189突变位点与家族性2型糖尿病的相关性研究.中国综合临床,2015,31(9):777-781Han R,Pu L,Dong X,et al.Clinical Med China,2015,31(9):777-781
[26]Fuku N,Park K S,Yamada Y,et al.Mitochondrial Haplogroup N9a Confers Resistance against Type 2 diabetes in Asians.American Journal of Human Genetics,2007,80(3):407-415
[27]李伟,沈飞霞,刘晓婷,等.线粒体单体型与2型糖尿病的发病风险的关联性研究[R].2010中国青年遗传学家论坛论文摘要汇编Study on the relationship between mitochondrial haplotype and the risk of type 2 diabetes mellitus,Genetics and Social Sustainable Development-the Colletion of the 2010 Chinese Youth Geneticist Forum’s Article Abstracts
[28]Hwang S,Kwak S H,Bhak J,et al.Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2diabetes-associated mitochondrial DNA haplogroups.Plos One,2011,6(7):e22116-e22116
[29]Bai R K,Leal S M,Covarrubias D,et al.Mitochondrial genetic background modifies breast cancer risk.Cancer Res,2007,67(10):4687-4694
[30]Fang HZ,Shen LJ,Chen T,et al.Cancer type-specific modulation of mitochondrial haplogroups in breast,colorectal and thyroid cancer.BMC Cancer,2010,10:421
[31]Grzybowska-szatkowska L,Slaska B.Polymorphisms in genes encoding mt-t RNA in female breast cancer in Poland.Mitochondrial DNA,2012,23(2):106-111
[32]Tipirisetti N R,Rao K L,Govatati S,et al.Mitochondrial genome variations in advanced stage breast cancer:A case-control study.Mitochondrion,2013,13(4):372-378
[33]Blein S,Bardel C,Danjean V,et al.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.Breast Cancer Research,2015,17(1):1-15
[34]Li X Y,Guo Y B,Su M,et al.Association of mitochondrial haplogroup D and risk of esophageal cancer in Taihang Mountain and Chaoshan areas in China.Mitochondrion,2011,11(1):27-32
[35]Wei L,Zhao Y,Guo T K,et al.Association of mt DNA D-Loop polymorphisms with risk of gastric cancer in Chinese population.Pathol Oncol Res,2011,17(3):735-742
[36]Jandova J,Shi M,Norman K G,et al.Somatic alterations in mitochondrial DNA produce changes in cell growth and metabolism supporting a tumorigenic phenotype.Biochim Biophys Acta,2012,1822(2):293-300
[37]Jandova K,Eshaghian A,Shi M,et al.Identification of a mt DNA mutation hotspot in UV-induced mouse skin tumors producing altered cellular biochemistry.Journal of Invest Derm,2012,132(2):421-428.
[38]Kirchner S C,Hallagan S E,Farin F M,et al.Mitochondrial ND1sequence analysis and association of the T4216C mutation with Parkinson’s disease.Neurotoxicology,2000,21(4):441-445
[39]van der Walt J M,Nicodemus K K,Martin E R,et al.Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.Am J Hum Genet,2003,72(4):804-811
[40]Shigeru T.Mitochondrial haplogroups associated with Japanese centenarians,Alzheimer’s patients,Parkinson’s patients,type 2diabetic patients and healthy non-obese young males.J Genet Genomics,2009,36(7):425-434
[41]Chen Y F,Chen W J,Lin X Z,et al.Mitochondrial DNA haplogroups and the risk of sporadic parkinson’s disease in han Chinese.Chin Med J(Engl),2015,128(13):1748-1754
[42]Liou C W,Chuang J H,Chen J B,et al.Mitochondrial DNA variants as genetic risk factors for Parkinson Disease.Eur J Neurol,2016,0:1-12
[43]Ruiz-Pesini E,Lapea A C,Díez-Sánchez C,et al.Human mt DNA haplogroups associated with high or reduced spermatozoa motility.Am J Hum Genet,2000,67(3):682-696
[44]Castro M G,Huerta C,Reguero J R,et al.Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.Int J Cardiol,2006,112(2):202-206
[45]Tanaka M,Fuku N,Nishigaki Y,et al.Women with mitochondrial haplogroup N9a are protected against metabolic syndrome.Diabetes,2007,56(2):518-521
[46]Govatati S,Tipirisetti N R,Perugu S,et al.Mitochondrial genome variations in advanced stage endometriosis:a study in south indian population.PLo S One,2012,7(7):372-378
[47]Zifa E,Daniil Z,Skoumi E,et al.Mitochondrial genetic background plays a role in increasing risk to asthma.Mol Biol Rep,2012,39(4):4697-4708