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Adam Scheid, T. Beadnell, D. Welch (2019)The second genome: Effects of the mitochondrial genome on cancer progression.
Advances in cancer research, 142
Jun Jiang, Yuan Jiang, YaoGang Zhang, Tao Zhang, Jianhua Li, Dengliang Huang, J. Hou, M. Tian, Li Sun, Xiaoming Su, Yun Dong, Yanyan Ma (2021)The effects of hypoxia on mitochondrial function and metabolism in gastric cancer cells
Translational Cancer Research, 10
C. Tzen, P. Thajeb, Tsu‐Yen Wu, Shiu-Ching Chen (2003)Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g)
Muscle & Nerve, 28
Zidong Jia, Xinjian Wang, Yanwen Qin, L. Xue, Pingping Jiang, Yanzi Meng, Suxue Shi, Yan Wang, Jun Mo, M. Guan (2013)Coronary heart disease is associated with a mutation in mitochondrial tRNA.
Human molecular genetics, 22 20
Timothy Kenny, D. Germain (2017)mtDNA, Metastasis, and the Mitochondrial Unfolded Protein Response (UPRmt)
Frontiers in Cell and Developmental Biology, 5
Chia-Chi Hsu, L. Tseng, Hsin-Chen Lee (2016)Role of mitochondrial dysfunction in cancer progression
Experimental Biology and Medicine, 241
Thalia Salinas-Giegé, R. Giegé, P. Giegé (2015)tRNA Biology in Mitochondria
International Journal of Molecular Sciences, 16
J. Stewart, Babak Alaeimahabadi, R. Sabarinathan, T. Samuelsson, J. Gorodkin, C. Gustafsson, E. Larsson (2015)Simultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers
PLoS Genetics, 11
Zhinan Ding, Jingzhang Ji, Guorong Chen, Hezhi Fang, Shihui Yan, Lijun Shen, Jia Wei, Kaiyan Yang, Jianxin Lu, Yidong Bai (2010)Analysis of mitochondrial DNA mutations in D-loop region in thyroid lesions.
Biochimica et biophysica acta, 1800 3
Yanwen Qin, L. Xue, Pingping Jiang, Meifen Xu, Yiqun He, Suxue Shi, Yan-Wang Huang, Jiqiang He, J. Mo, M. Guan (2014)Mitochondrial tRNA Variants in Chinese Subjects With Coronary Heart Disease
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 3
Antonio Santidrián, A. Matsuno‐Yagi, Melissa Ritland, B. Seo, Sarah Leboeuf, Laurie Gay, T. Yagi, B. Felding‐Habermann (2013)Mitochondrial complex I activity and NAD+/NADH balance regulate breast cancer progression.
The Journal of clinical investigation, 123 3
A. El-Hattab, W. Craigen, F. Scaglia (2017)Mitochondrial DNA maintenance defects.
Biochimica et biophysica acta. Molecular basis of disease, 1863 6
Hezhi Fang, Xinwei Liu, Lijun Shen, Fengjie Li, Yihong Liu, H. Chi, Huikai Miao, Jianxin Lu, Yidong Bai (2014)Role of mtDNA Haplogroups in the Prevalence of Knee Osteoarthritis in a Southern Chinese Population
International Journal of Molecular Sciences, 15
E. Arbustini, R. Fasani, P. Morbini, M. Diegoli, M. Grasso, B. Bello, E. Marangoni, P. Banfi, N. Banchieri, O. Bellini, G. Comi, J. Narula, C. Campana, A. Gavazzi, C. Danesino, M. Vigano' (1998)Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
S. Kirchner, Z. Ignatova (2014)Emerging roles of tRNA in adaptive translation, signalling dynamics and disease
Nature Reviews Genetics, 16
K. Polyak (2011)Heterogeneity in breast cancer.
The Journal of clinical investigation, 121 10
Zidong Jia, Ye Zhang, Qiang Li, Zhenzhen Ye, Yuqi Liu, Changzhu Fu, Xiaohui Cang, Meng Wang, M. Guan (2018)A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis
Nucleic Acids Research, 47
S. Weinhouse (1956)On respiratory impairment in cancer cells.
Science, 124 3215
Y. Tong, Yi-jian Mao, Xiangtian Zhou, Li Yang, Juanjuan Zhang, W. Cai, Fuxin Zhao, Xinjian Wang, F. Lu, J. Qu, M. Guan (2007)The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications, 357 2
Yu Ding, Yongyan Li, Junyan You, Li Yang, Bobei Chen, Jianxin Lu, M. Guan (2009)Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
Journal of genetics and genomics = Yi chuan xue bao, 36 4
E. Schon, E. Bonilla, S. Dimauro (1997)Mitochondrial DNA Mutations and Pathogenesis
Journal of Bioenergetics and Biomembranes, 29
S. Anderson, A. Bankier, B. Barrell, M. Bruijn, A. Coulson, J. Drouin, J. Drouin, I. Eperon, D. Nierlich, D. Nierlich, B. Roe, B. Roe, F. Sanger, P. Schreier, A. Smith, R. Staden, I. Young, I. Young (1981)Sequence and organization of the human mitochondrial genome
D. Wallace (2012)Mitochondria and cancer
Nature Reviews Cancer, 12
Xiao-wen Tang, Ronghua Li, Jing Zheng, Qin Cai, Ting Zhang, Sha-sha Gong, W. Zheng, Xiumei He, Yi Zhu, L. Xue, Aifen Yang, Li Yang, Jianxin Lu, M. Guan (2010)Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
Molecular genetics and metabolism, 100 1
Nageswara Tipirisetti, Suresh Govatati, Priyanka Pullari, Sravanthi Malempati, M. Thupurani, Shyam Perugu, P. Guruvaiah, L. K, R. Digumarti, Varadacharyulu Nallanchakravarthula, M. Bhanoori, Vishnupriya Satti (2014)Mitochondrial Control Region Alterations and Breast Cancer Risk: A Study in South Indian Population
PLoS ONE, 9
Robert Taylor, C. Giordano, M. Davidson, G. d’Amati, H. Bain, C. Hayes, H. Leonard, M. Barron, C. Casali, F. Santorelli, M. Hirano, R. Lightowlers, S. Dimauro, D. Turnbull (2003)A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
Journal of the American College of Cardiology, 41 10
L. Levinger, M. Mörl, C. Florentz (2004)Mitochondrial tRNA 3' end metabolism and human disease.
Nucleic acids research, 32 18
Neelu Yadav, D. Chandra (2013)Mitochondrial DNA mutations and breast tumorigenesis.
Biochimica et biophysica acta, 1836 2
E. Ruiz‐Pesini, D. Wallace (2006)Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA
Human Mutation, 27
R. Filograna, M. Mennuni, David Alsina, N. Larsson (2020)Mitochondrial DNA copy number in human disease: the more the better?
Febs Letters, 595
J. Yarham, M. Al-Dosary, E. Blakely, C. Alston, Robert Taylor, J. Elson, R. Mcfarland (2011)A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations
Human Mutation, 32
Anbarasu Kannan, Robert Wells, S. Sivakumar, S. Komatsu, Karan Singh, B. Samten, J. Philley, E. Sauter, M. Ikebe, S. Idell, Sudeep Gupta, S. Dasgupta (2016)Mitochondrial Reprogramming Regulates Breast Cancer Progression
Clinical Cancer Research, 22
M. Oven, M. Kayser (2009)Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
Human Mutation, 30
D. Ivanova, Z. Zhelev, I. Aoki, R. Bakalova, T. Higashi (2016)Overproduction of reactive oxygen species - obligatory or not for induction of apoptosis by anticancer drugs
Chinese Journal of Cancer Research, 28
L. Xue, Yaru Chen, Xiao-wen Tang, Juan Yao, Huimin Huang, Min Wang, Shixin Ye, Meng Wang, M. Guan (2019)A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function.
F. Bray, J. Ferlay, I. Soerjomataram, R. Siegel, Lindsey Torre, A. Jemal (2018)Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries
CA: A Cancer Journal for Clinicians, 68
Yu Ding, Zhaochang Jiang, Bohou Xia, Lizong Zhang, Caijuan Zhang, Jianhang Leng (2018)Mitochondria-targeted antioxidant therapy for an animal model of PCOS-IR
International Journal of Molecular Medicine, 43
S. Sacconi, L. Salviati, C. Gooch, E. Bonilla, S. Shanske, S. Dimauro (2002)Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology, 59 6
Marty Brandon, P. Baldi, D. Wallace (2006)Mitochondrial mutations in cancer
J. Jeng, Tien‐Shun Yeh, Jing-Wen Lee, Shyh-Hsiang Lin, Tsorng Fong, R. Hsieh (2008)Maintenance of mitochondrial DNA copy number and expression are essential for preservation of mitochondrial function and cell growth
Journal of Cellular Biochemistry, 103
R. Andrews, I. Kubacka, P. Chinnery, R. Lightowlers, D. Turnbull, N. Howell (1999)Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Nature Genetics, 23
V. Tiranti, L. D'agruma, D. Pareyson, M. Mora, Franco St, L. Zelante, P. Gasparini, M. Zeviani (1998)A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation
Annals of Neurology, 43
ABSTRACTDamage of mitochondrial functions caused by mitochondrial DNA (mtDNA) pathogenic mutations had long been proposed to be involved in breast carcinogenesis. However, the detailed pathological mechanism remained deeply undetermined. In this case-control study, we screened the frequencies of mitochondrial tRNA (mt-tRNA) mutations in 80 breast cancer tissues and matched normal adjacent tissues. PCR and Sanger sequence revealed five possible pathogenic mutations: tRNAVal G1606A, tRNAIle A4300G, tRNASer(UCN) T7505C, tRNAGlu A14693G and tRNAThr G15927A. We noticed that these mutations resided at extremely conserved positions of tRNAs and would affect tRNAs transcription or modifications. Furthermore, functional analysis suggested that patients with these mt-tRNA mutations exhibited much lower levels of mtDNA copy number and ATP, as compared with controls (p<0.05). Therefore, it can be speculated that these mutations may impair mitochondrial protein synthesis and oxidative phosphorylation (OXPHOS) complexes, which caused mitochondrial dysfunctions that were involved in the breast carcinogenesis. Taken together, our data indicated that mutations in mt-tRNA were the important contributors to breast cancer, and mutational analyses of mt-tRNA genes were critical for prevention of breast cancer.
Balkan Journal of Medical Genetics – de Gruyter
Published: Dec 1, 2022
Keywords: breast cancer; mitochondrial tRNAs; mutations; carcinogenesis; pathogenic; mitochondrial dysfunction
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