ANALYSIS OF MITOCHONDRIAL TRANSFER
RNA MUTATIONS IN BREAST CANCER
Ding H.J.1, Zhao Y.P.2, Jiang Z.C.3, Zhou D.T.4, Zhu R.1*
Han-Jie Ding and Ya-Ping Zhao contribute equally for this work
*Corresponding Author: Ph.D. Rui Zhu, School of Pharmaceutical Sciences, Zhejiang Chinese
Medical University, Binwen Road No. 548, Hangzhou, P.R. China. Phone/Fax: 0086-0571-86633133,
E-mail: zhuruizjtcm@yeah.net
page: 15
|
|
REFERENCES
1. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre
LA, Jemal A. Global cancer statistics 2018: GLOBOCAN
estimates of incidence and mortality worldwide
for 36 cancers in 185 countries. CA Cancer J Clin.
2018; 68(6): 394-424.
2. Kannan A, Wells RB, Sivakumar S, Komatsu S, Singh
KP, Samten B, et al. Mitochondrial reprogramming
regulates breast cancer progression. Clin Cancer Res.
2016; 22(13): 3348-3360.
3. Polyak K. Heterogeneity in breast cancer. J Clin Invest.
2011; 121(10): 3786-3788.
4. Warburg O. On respiratory impairment in cancer
cells. Science. 1956; 124(3215): 269-270.
5. Brandon M, Baldi P, Wallace DC. Mitochondrial mutations
in cancer. Oncogene. 2006; 25(34): 4647-4662.
6. Wallace DC. Mitochondria and cancer. Nat Rev Cancer.
2012; 12(10): 685-698.
7. Anderson S, Bankier AT, Barrell BG, de Bruijn MH,
Coulson AR, Drouin J, et al. Sequence and organization
of the human mitochondrial genome. Nature.
1981; 290(5806): 457-465.
8. Scheid AD, Beadnell TC, Welch DR. The second genome:
Effects of the mitochondrial genome on cancer
progression. Adv Cancer Res. 2019; 142: 63-105.
9. Kenny TC, Germain D. mtDNA, Metastasis, and the
Mitochondrial Unfolded Protein Response (UPRmt).
Front Cell Dev Biol. 2017; 5: 37.
10. Stewart JB, Alaei-Mahabadi B, Sabarinathan R,
Samuelsson T, Gorodkin J, Gustafsson CM, et al.
Simultaneous DNA and RNA mapping of somatic
mitochondrial mutations across diverse human cancers.
PLoS Genet. 2015; 11(6): e1005333.
11. Yadav N, Chandra D. Mitochondrial DNA mutations
and breast tumorigenesis. Biochim Biophys Acta.
2013; 1836(2): 336-344.
12. Tipirisetti NR, Govatati S, Pullari P, Malempati S,
Thupurani MK, Perugu S, et al. Mitochondrial control
region alterations and breast cancer risk: a study
in South Indian population. PLoS One. 2014; 9(1):
e85363.
13. Santidrian AF, Matsuno-Yagi A, Ritland M, Seo BB,
LeBoeuf SE, Gay LJ, et al. Mitochondrial complex
I activity and NAD+/NADH balance regulate breast
cancer progression. J Clin Invest. 2013; 123(3):1068-
1081.
14. Hsu CC, Tseng LM, Lee HC. Role of mitochondrial
dysfunction in cancer progression. Exp Biol Med
(Maywood). 2016; 241(12): 1281-1295.
15. Kirchner S, Ignatova Z. Emerging roles of tRNA in
adaptive translation, signalling dynamics and disease.
Nat Rev Genet. 2015; 16(2): 98-112.
16. Salinas-Giegé T, Giegé R, Giegé P. tRNA biology in
mitochondria. Int J Mol Sci. 2015; 16(3): 4518-4559.
17. Schon EA, Bonilla E, DiMauro S. Mitochondrial
DNA mutations and pathogenesis. J Bioenerg Biomembr.
1997; 29(2): 131-149.
18. Ding Z, Ji J, Chen G, Fang H, Yan S, Shen L, et
al. Analysis of mitochondrial DNA mutations in Dloop
region in thyroid lesions. Biochim Biophys Acta.
2010; 1800(3): 271-274.
19. Qin Y, Xue L, Jiang P, Xu M, He Y, Shi S, et al. Mitochondrial
tRNA variants in Chinese subjects with
coronary heart disease. J Am Heart Assoc. 2014; 3(1):
e000437.
20. Andrews RM, Kubacka I, Chinnery PF, Lightowlers
RN, Turnbull DM, Howell N. Reanalysis and revision
of the Cambridge reference sequence for human
mitochondrial DNA. Nat Genet. 1999; 23(2):147.
21. van Oven M, Kayser M. Updated comprehensive phylogenetic
tree of global human mitochondrial DNA
variation. Hum Mutat. 2009; 30(2): E386-394.
22. Jiang J, Jiang Y, Zhang YG, Zhang T, Li JH, Huang
DL, et al. The effects of hypoxia on mitochondrial
function and metabolism in gastric cancer cells.
Transl Cancer Res. 2021; 10(2): 817-826.
23. Fang H, Liu X, Shen L, Li F, Liu Y, Chi H, et al. Role
of mtDNA haplogroups in the prevalence of knee
osteoarthritis in a southern Chinese population. Int J
Mol Sci. 2014; 15(2): 2646-2659.
24. Ding Y, Jiang Z, Xia B, Zhang L, Zhang C, Leng
J. Mitochondria-targeted antioxidant therapy for an
animal model of PCOS-IR. Int J Mol Med. 2019;
43(1): 316-324.
25. Yarham JW, Al-Dosary M, Blakely EL, Alston CL,
Taylor RW, Elson JL, et al. A comparative analysis
approach to determining the pathogenicity of mitochondrial
tRNA mutations. Hum Mutat. 2011; 32(11):
1319-1325.
26. Ruiz-Pesini E, Wallace DC. Evidence for adaptive
selection acting on the tRNA and rRNA genes of human
mitochondrial DNA. Hum Mutat. 2006; 27(11):
1072-1081.
27. Tiranti V, D’Agruma L, Pareyson D, Mora M, Carrara
F, Zelante L, et al. A novel mutation in the mitochondrial
tRNA(Val) gene associated with a complex
neurological presentation. Ann Neurol. 1998; 43(1):
98-101.
28. Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske
S, DiMauro S. Complex neurologic syndrome associated
with the G1606A mutation of mitochondrial
DNA. Arch Neurol. 2002; 59(6): 1013-1015.
29. Taylor RW, Giordano C, Davidson MM, d’Amati G,
Bain H, Hayes CM, et al. A homoplasmic mitochondrial
transfer ribonucleic acid mutation as a cause of
maternally inherited hypertrophic cardiomyopathy. J
Am Coll Cardiol. 2003; 41(10): 1786-1796.
30. Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso
M, Dal Bello B, et al. Coexistence of mitochondrial
DNA and beta myosin heavy chain mutations in hypertrophic
cardiomyopathy with late congestive heart
failure. Heart. 1998; 80(6): 548-558.
31. Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, et al.
Maternally inherited hearing loss is associated with
the novel mitochondrial tRNA Ser(UCN) 7505T>C
mutation in a Han Chinese family. Mol Genet Metab.
2010; 100(1): 57-64.
32. Xue L, Chen Y, Tang X, Yao J, Huang H, Wang M, et
al. A deafness-associated mitochondrial DNA mutation
altered the tRNA(Ser(UCN)) metabolism and
mitochondrial function. Mitochondrion. 2019; 46:
370-379.
33. Tzen CY, Thajeb P, Wu TY, Chen SC. Melas with
point mutations involving tRNALeu (A3243G) and
tRNAGlu(A14693g). Muscle Nerve. 2003; 28(5):
575-581.
34. Levinger L, Mörl M, Florentz C. Mitochondrial tRNA
3’ end metabolism and human disease. Nucleic Acids
Res. 2004; 32(18): 5430-5441.
35. Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan
MX. Mitochondrial tRNA(Glu) A14693G variant
may modulate the phenotypic manifestation of deafness-
associated 12S rRNA A1555G mutation in a
Han Chinese family. J Genet Genomics. 2009; 36(4):
241-250.
36. Tong Y, Mao Y, Zhou X, Yang L, Zhang J, Cai W, et
al. 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. Biochem Biophys Res
Commun. 2007; 357(2): 524-530.
37. Jia Z, Zhang Y, Li Q, Ye Z, Liu Y, Fu C, et al. A
coronary artery disease-associated tRNAThr mutation
altered mitochondrial function, apoptosis and angiogenesis.
Nucleic Acids Res. 2019; 47(4): 2056-2074.
38. Jia Z, Wang X, Qin Y, Xue L, Jiang P, Meng Y, et al.
Coronary heart disease is associated with a mutation
in mitochondrial tRNA. Hum Mol Genet. 2013;
22(20): 4064-4073.
39. Filograna R, Mennuni M, Alsina D, Larsson NG.
Mitochondrial DNA copy number in human disease:
the more the better? FEBS Lett. 2021; 595(8): 976-
1002.
40. El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial
DNA maintenance defects. Biochim Biophys Acta
Mol Basis Dis. 2017; 1863(6): 1539-1555.
41. Jeng JY, Yeh TS, Lee JW, Lin SH, Fong TH, Hsieh
RH. Maintenance of mitochondrial DNA copy number
and expression are essential for preservation of
mitochondrial function and cell growth. J Cell Biochem.
2008;103(2): 347-357.
42. Ivanova D, Zhelev Z, Aoki I, Bakalova R, Higashi T.
Overproduction of reactive oxygen species - obligatory
or not for induction of apoptosis by anticancer
drugs. Chin J Cancer Res. 2016; 28(4): 383-396.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
