Advances of Research on Ataxia Telangiectasia Mutated Gene and Risk Factors of Cardiovascular Disease_Journal of Biomedical Engineering

Authors：

DINGXiang ¹ , DINGYi ² , YUEJirong ¹ , XIAOHengyi ² ,  DONGBirong ¹

1. Department of Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, China;
2. Lab for Aging Research, State Key Laboratory of Biotherapy, Sichuan University, Chengdu 610041, China;

Corresponding author：

DONGBirong, Email: birongdong@163.com

Keywords：

ataxia telangiectasia mutated gene; aging; atherosclerosis; metabolic syndrome; DNA damage

DOI：

10.7507/1001-5515.20150086

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Cardiovascular disease is a severe threat to human health and life. Among many risk factors of cardiovascular disease, genetic or gene-based ones are drawing more and more attention in recent years. Accumulated evidence has demonstrated that the loss or mutation of ataxia telangiectasia mutated (ATM) gene can result in DNA damage repair dysfunctions, telomere shortening, decreased antioxidant capacity, insulin resistance, increased lipid levels, etc., and thus can promote the occurrence of cardiovascular risk factors, such as aging, atherosclerosis and metabolic syndrome. In this review, we discusses the possible mechanisms between ATM gene and cardiovascular risk factors, which could be helpful to the related research and clinical application.

Citation： DINGXiang, DINGYi, YUEJirong, XIAOHengyi, DONGBirong. Advances of Research on Ataxia Telangiectasia Mutated Gene and Risk Factors of Cardiovascular Disease. Journal of Biomedical Engineering, 2015, 32(2): 475-479. doi: 10.7507/1001-5515.20150086 Copy

1.	FOSTER C R, ZHA Q, DANIEL L L, et al. Lack of ataxia telangiectasia mutated kinase induces structural and functional changes in the heart:role inβ-adrenergic receptor-stimulated apoptosis[J]. Exp Physiol, 2012, 97(4):506-515.
2.	GORR M W, STEVENS S C, WOLD L E. Ataxia telangiectasia mutated kinase in the heart:currency for myocyte apoptosis[J]. Exp Physiol, 2012, 97(4):476.
3.	BHATTI S, KOZLOV S, FAROOQI A A, et al. ATM protein kinase:the linchpin of cellular defenses to stress[J]. Cell Mol Life Sci, 2011, 68(18):2977-3006.
4.	SHEN L, YIN Z H, WAN Y, et al. Association between ATM polymorphisms and cancer risk:a meta-analysis[J]. Mol Biol Rep, 2012, 39(5):5719-5725.
5.	SOUKUPOVA J, POHLREICH P, SEEMANOVA E. Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients[J]. Neuromolecular Med, 2011, 13(3):204-211.
6.	FOSTER C R, SINGH M, SUBRAMANIAN V, et al. Ataxia telangiectasia mutated kinase plays a protective role inβ-adrenergic receptor-stimulated cardiac myocyte apoptosis and myocardial remodeling[J]. Mol Cell Biochem, 2011, 353(1-2):13-22.
7.	CHEN T, DONG B, LU Z, et al. A functional single nucleotide polymorphism in promoter of ATM is associated with longevity[J]. Mech Ageing Dev, 2010, 131(10):636-640.
8.	PARK J, JO Y H, CHO C H, et al. ATM-deficient human fibroblast cells are resistant to low levels of DNA double-strand break induced apoptosis and subsequently undergo drug-induced premature senescence[J]. Biochem Biophys Res Commun, 2013, 430(1):429-435.
9.	WANG Y J, SUN H, LIU G T, et al. Advances in the study of p53 in response to DNA damage[J]. Yao Xue Xue Bao, 2011, 46(12):1413-1419.
10.	刘璐, 廖绍光, 王宁, 等.ATM在淋巴结阴性乳腺癌中的表达及临床意义[J].医学研究杂志, 2012, 41(9):40-43.
11.	JU Z, ZHANG J, GAO Y, et al. Telomere dysfunction and cell cycle checkpoints in hematopoietic stem cell aging[J]. Int J Hematol, 2011, 94(1):33-43.
12.	COSENTINO C, GRIECO D, COSTANZO V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair[J]. EMBO J, 2011, 30(3):546-555.
13.	柴笑, 赵明峰.活性氧与骨髓造血干细胞衰老研究进展[J].中国实验血液学杂志, 2012, 20(6):1518-1521.
14.	KASSI E, PERVANIDOU P, KALTSAS G, et al. Metabolic syndrome:definitions and controversies[J]. BMC Med, 2011, 9(48):48.
15.	ZHOU K, BELLENGUEZ C, SPENCER C C, et al. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes[J]. Nat Genet, 2011, 43(2):117-120.
16.	沈燕, 黎红华.胰岛素抵抗导致动脉粥样硬化的机制研究[J].神经损伤与功能重建, 2012, 7(5):377-379.
17.	LI S, ZHANG L, CHEN T, et al. Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis[J]. Atherosclerosis, 2011, 219(2):694-697.
18.	MERCER J R, YU E, FIGG N, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/-mice[J]. Free Radic Biol Med, 2012, 52(5):841-849.
19.	PATEL A Y, MCDONALD T M, SPEARS L D, et al. Ataxia telangiectasia mutated influences cytochrome c oxidase activity[J]. Biochem Biophys Res Commun, 2011, 405(4):599-603.
20.	WEIZMAN N, SHILOH Y, BARZILAI A. Contribution of the ATM protein to maintaining cellular homeostasis evidenced by continuous activation of the AP-1 pathway in ATM-deficient brains[J]. J Biol Chem, 2003, 278(9):6741-6747.
21.	张薇.胰岛素抵抗在氧化应激致动脉粥样硬化中的作用[J].内蒙古医学杂志, 2013, 45(2):184-187, 138.
22.	SCHNEIDER J G, FINCK B N, REN J, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome[J]. Cell Metab, 2006, 4(5):377-389.
23.	YU E, CALVERT P A, MERCER J R, et al. Mitochondrial DNA damage can promote atherosclerosis independently of reactive Oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humans[J]. Circulation, 2013, 128(7):702-712.
24.	ARMATA H L, GOLEBIOWSKI D, JUNG D Y, et al. Requirement of the ATM/p53 tumor suppressor pathway for glucose homeostasis[J]. Mol Cell Biol, 2010, 30(24):5787-5794.
25.	FENG Z, HU W, TERESKY A K, et al. Declining p53 function in the aging process:a possible mechanism for the increased tumor incidence in older populations[J]. Proc Natl Acad Sci U S A, 2007, 104(42):16633-16638.
26.	CHEN M Z, CHENG G H, MA L, et al. Association study between TNFSF4 and coronary heart disease[J]. Hereditas, 2011, 33(3):239-245.
27.	SMIRNOV D A, CHEUNG V G. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs[J]. Am J Hum Genet, 2008, 83(2):243-253.
28.	ZHOU Y, WAN G, SPIZZO R, et al. miR-203 induces oxaliplatin resistance in colorectal Cancer cells by negatively regulating ATM kinase[J]. Mol Oncol, 2014, 8(1):83-92.
29.	LU P H, WEI M X, SI S P, et al. Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk:evidence from the current studies[J]. Breast Cancer Res Treat, 2011, 126(1):141-148.
30.	KIM J W, IM S A, KIM M A, et al. Ataxia-telangiectasia mutated protein expression with microsatellite instability in gastric cancer as prognostic marker[J]. Int J Cancer, 2014, 134(1):72-80.

1. FOSTER C R, ZHA Q, DANIEL L L, et al. Lack of ataxia telangiectasia mutated kinase induces structural and functional changes in the heart:role inβ-adrenergic receptor-stimulated apoptosis[J]. Exp Physiol, 2012, 97(4):506-515.
2. GORR M W, STEVENS S C, WOLD L E. Ataxia telangiectasia mutated kinase in the heart:currency for myocyte apoptosis[J]. Exp Physiol, 2012, 97(4):476.
3. BHATTI S, KOZLOV S, FAROOQI A A, et al. ATM protein kinase:the linchpin of cellular defenses to stress[J]. Cell Mol Life Sci, 2011, 68(18):2977-3006.
4. SHEN L, YIN Z H, WAN Y, et al. Association between ATM polymorphisms and cancer risk:a meta-analysis[J]. Mol Biol Rep, 2012, 39(5):5719-5725.
5. SOUKUPOVA J, POHLREICH P, SEEMANOVA E. Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients[J]. Neuromolecular Med, 2011, 13(3):204-211.
6. FOSTER C R, SINGH M, SUBRAMANIAN V, et al. Ataxia telangiectasia mutated kinase plays a protective role inβ-adrenergic receptor-stimulated cardiac myocyte apoptosis and myocardial remodeling[J]. Mol Cell Biochem, 2011, 353(1-2):13-22.
7. CHEN T, DONG B, LU Z, et al. A functional single nucleotide polymorphism in promoter of ATM is associated with longevity[J]. Mech Ageing Dev, 2010, 131(10):636-640.
8. PARK J, JO Y H, CHO C H, et al. ATM-deficient human fibroblast cells are resistant to low levels of DNA double-strand break induced apoptosis and subsequently undergo drug-induced premature senescence[J]. Biochem Biophys Res Commun, 2013, 430(1):429-435.
9. WANG Y J, SUN H, LIU G T, et al. Advances in the study of p53 in response to DNA damage[J]. Yao Xue Xue Bao, 2011, 46(12):1413-1419.
10. 刘璐, 廖绍光, 王宁, 等.ATM在淋巴结阴性乳腺癌中的表达及临床意义[J].医学研究杂志, 2012, 41(9):40-43.
11. JU Z, ZHANG J, GAO Y, et al. Telomere dysfunction and cell cycle checkpoints in hematopoietic stem cell aging[J]. Int J Hematol, 2011, 94(1):33-43.
12. COSENTINO C, GRIECO D, COSTANZO V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair[J]. EMBO J, 2011, 30(3):546-555.
13. 柴笑, 赵明峰.活性氧与骨髓造血干细胞衰老研究进展[J].中国实验血液学杂志, 2012, 20(6):1518-1521.
14. KASSI E, PERVANIDOU P, KALTSAS G, et al. Metabolic syndrome:definitions and controversies[J]. BMC Med, 2011, 9(48):48.
15. ZHOU K, BELLENGUEZ C, SPENCER C C, et al. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes[J]. Nat Genet, 2011, 43(2):117-120.
16. 沈燕, 黎红华.胰岛素抵抗导致动脉粥样硬化的机制研究[J].神经损伤与功能重建, 2012, 7(5):377-379.
17. LI S, ZHANG L, CHEN T, et al. Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis[J]. Atherosclerosis, 2011, 219(2):694-697.
18. MERCER J R, YU E, FIGG N, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/-mice[J]. Free Radic Biol Med, 2012, 52(5):841-849.
19. PATEL A Y, MCDONALD T M, SPEARS L D, et al. Ataxia telangiectasia mutated influences cytochrome c oxidase activity[J]. Biochem Biophys Res Commun, 2011, 405(4):599-603.
20. WEIZMAN N, SHILOH Y, BARZILAI A. Contribution of the ATM protein to maintaining cellular homeostasis evidenced by continuous activation of the AP-1 pathway in ATM-deficient brains[J]. J Biol Chem, 2003, 278(9):6741-6747.
21. 张薇.胰岛素抵抗在氧化应激致动脉粥样硬化中的作用[J].内蒙古医学杂志, 2013, 45(2):184-187, 138.
22. SCHNEIDER J G, FINCK B N, REN J, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome[J]. Cell Metab, 2006, 4(5):377-389.
23. YU E, CALVERT P A, MERCER J R, et al. Mitochondrial DNA damage can promote atherosclerosis independently of reactive Oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humans[J]. Circulation, 2013, 128(7):702-712.
24. ARMATA H L, GOLEBIOWSKI D, JUNG D Y, et al. Requirement of the ATM/p53 tumor suppressor pathway for glucose homeostasis[J]. Mol Cell Biol, 2010, 30(24):5787-5794.
25. FENG Z, HU W, TERESKY A K, et al. Declining p53 function in the aging process:a possible mechanism for the increased tumor incidence in older populations[J]. Proc Natl Acad Sci U S A, 2007, 104(42):16633-16638.
26. CHEN M Z, CHENG G H, MA L, et al. Association study between TNFSF4 and coronary heart disease[J]. Hereditas, 2011, 33(3):239-245.
27. SMIRNOV D A, CHEUNG V G. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs[J]. Am J Hum Genet, 2008, 83(2):243-253.
28. ZHOU Y, WAN G, SPIZZO R, et al. miR-203 induces oxaliplatin resistance in colorectal Cancer cells by negatively regulating ATM kinase[J]. Mol Oncol, 2014, 8(1):83-92.
29. LU P H, WEI M X, SI S P, et al. Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk:evidence from the current studies[J]. Breast Cancer Res Treat, 2011, 126(1):141-148.
30. KIM J W, IM S A, KIM M A, et al. Ataxia-telangiectasia mutated protein expression with microsatellite instability in gastric cancer as prognostic marker[J]. Int J Cancer, 2014, 134(1):72-80.

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