Hepatitis Monthly

Published by: Kowsar

Analysis of Mitochondrial 4977-bp Deletion and D-Loop Variation in Iranian Non-Alcoholic Fatty Liver Disease Patients

Sharareh Kamfar 1 , Seyed Moayed Alavian 2 , 3 , Kambiz Hasrak 4 , Massoud Houshmand 5 , Bahram Seifi Zarei 6 , Alireza Khalaj 7 , Forough Homaunpur 8 and Massoud Saidijam 9 , 10 , *
Authors Information
1 Department of Molecular Medicine and Genetics, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
2 Baqiyatallah Research Center for Gastroenterology and Liver Diseases (BRCGL), Baqiyatallah University of Medical Sciences, Tehran, Iran
3 Middle East Liver Diseases (MELD) Center, Tehran, Iran
4 Molecular Genetics Laboratory, Pathology Department, Baqiyatallah-al-Azam Subspeciality Hospital, Tehran, Iran
5 Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
6 School of Medicine, Shahid Beheshti Hospital, Hamadan University of Medical Sciences, Hamadan, Iran
7 Obesity Treatment Center, Department of Surgery, Shahed University, Tehran, Iran
8 Genetic Group, Azad University, Damghan, Iran
9 Department of Molecular Medicine and Genetics, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
10 Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Article information
  • Hepatitis Monthly: February 28, 2019, 19 (2); e84553
  • Published Online: February 23, 2019
  • Article Type: Research Article
  • Received: September 24, 2018
  • Revised: January 19, 2019
  • Accepted: February 1, 2019
  • DOI: 10.5812/hepatmon.84553

To Cite: Kamfar S, Alavian S M, Hasrak K, Houshmand M, Seifi Zarei B, et al. Analysis of Mitochondrial 4977-bp Deletion and D-Loop Variation in Iranian Non-Alcoholic Fatty Liver Disease Patients, Hepat Mon. 2019 ; 19(2):e84553. doi: 10.5812/hepatmon.84553.

Abstract
Copyright © 2019, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Objectives
3. Methods
4. Results
5. Discussion
Acknowledgements
Footnotes
References
  • 1. Chalasani N, Younossi Z, Lavine JE, Charlton M, Cusi K, Rinella M, et al. The diagnosis and management of nonalcoholic fatty liver disease: Practice guidance from the American Association for the Study of Liver Diseases. Hepatology. 2018;67(1):328-57. doi: 10.1002/hep.29367. [PubMed: 28714183].
  • 2. McCullough AJ. Pathophysiology of nonalcoholic steatohepatitis. J Clin Gastroenterol. 2006;40 Suppl 1:S17-29. doi: 10.1097/01.mcg.0000168645.86658.22. [PubMed: 16672820].
  • 3. Weiss J, Rau M, Geier A. Non-alcoholic fatty liver disease: Epidemiology, clinical course, investigation, and treatment. Dtsch Arztebl Int. 2014;111(26):447-52. doi: 10.3238/arztebl.2014.0447. [PubMed: 25019921]. [PubMed Central: PMC4101528].
  • 4. Loomba R, Sanyal AJ. The global NAFLD epidemic. Nat Rev Gastroenterol Hepatol. 2013;10(11):686-90. doi: 10.1038/nrgastro.2013.171. [PubMed: 24042449].
  • 5. Younossi ZM, Koenig AB, Abdelatif D, Fazel Y, Henry L, Wymer M. Global epidemiology of nonalcoholic fatty liver disease-meta-analytic assessment of prevalence, incidence, and outcomes. Hepatology. 2016;64(1):73-84. doi: 10.1002/hep.28431. [PubMed: 26707365].
  • 6. Masuoka HC, Chalasani N. Nonalcoholic fatty liver disease: An emerging threat to obese and diabetic individuals. Ann N Y Acad Sci. 2013;1281:106-22. doi: 10.1111/nyas.12016. [PubMed: 23363012]. [PubMed Central: PMC3646408].
  • 7. Bhatt HB, Smith RJ. Fatty liver disease in diabetes mellitus. Hepatobiliary Surg Nutr. 2015;4(2):101-8. doi: 10.3978/j.issn.2304-3881.2015.01.03. [PubMed: 26005676]. [PubMed Central: PMC4405411].
  • 8. Browning JD, Szczepaniak LS, Dobbins R, Nuremberg P, Horton JD, Cohen JC, et al. Prevalence of hepatic steatosis in an urban population in the United States: Impact of ethnicity. Hepatology. 2004;40(6):1387-95. doi: 10.1002/hep.20466. [PubMed: 15565570].
  • 9. Petersen KF, Dufour S, Feng J, Befroy D, Dziura J, Dalla Man C, et al. Increased prevalence of insulin resistance and nonalcoholic fatty liver disease in Asian-Indian men. Proc Natl Acad Sci U S A. 2006;103(48):18273-7. doi: 10.1073/pnas.0608537103. [PubMed: 17114290]. [PubMed Central: PMC1693873].
  • 10. Schneider AL, Lazo M, Selvin E, Clark JM. Racial differences in nonalcoholic fatty liver disease in the U.S. population. Obesity (Silver Spring). 2014;22(1):292-9. doi: 10.1002/oby.20426. [PubMed: 23512725]. [PubMed Central: PMC3690150].
  • 11. Hernaez R. Genetic factors associated with the presence and progression of nonalcoholic fatty liver disease: A narrative review. Gastroenterol Hepatol. 2012;35(1):32-41. doi: 10.1016/j.gastrohep.2011.08.002. [PubMed: 22093607].
  • 12. Pessayre D, Fromenty B. NASH: A mitochondrial disease. J Hepatol. 2005;42(6):928-40. doi: 10.1016/j.jhep.2005.03.004. [PubMed: 15885365].
  • 13. Oliveira CP, Coelho AM, Barbeiro HV, Lima VM, Soriano F, Ribeiro C, et al. Liver mitochondrial dysfunction and oxidative stress in the pathogenesis of experimental nonalcoholic fatty liver disease. Braz J Med Biol Res. 2006;39(2):189-94. [PubMed: 16470305].
  • 14. Wei Y, Rector RS, Thyfault JP, Ibdah JA. Nonalcoholic fatty liver disease and mitochondrial dysfunction. World J Gastroenterol. 2008;14(2):193-9. [PubMed: 18186554]. [PubMed Central: PMC2675113].
  • 15. Shakhssalim N, Houshmand M, Kamalidehghan B, Faraji A, Sarhangnejad R, Dadgar S, et al. The mitochondrial C16069T polymorphism, not mitochondrial D310 (D-loop) mononucleotide sequence variations, is associated with bladder cancer. Cancer Cell Int. 2013;13(1):120. doi: 10.1186/1475-2867-13-120. [PubMed: 24308421]. [PubMed Central: PMC3930351].
  • 16. Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene. 2006;25(34):4647-62. doi: 10.1038/sj.onc.1209607. [PubMed: 16892079].
  • 17. Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene. 2006;25(34):4663-74. doi: 10.1038/sj.onc.1209604. [PubMed: 16892080].
  • 18. Browning JD, Horton JD. Molecular mediators of hepatic steatosis and liver injury. J Clin Invest. 2004;114(2):147-52. doi: 10.1172/JCI22422. [PubMed: 15254578]. [PubMed Central: PMC449757].
  • 19. Day CP, James OF. Steatohepatitis: A tale of two "hits"? Gastroenterology. 1998;114(4):842-5. [PubMed: 9547102].
  • 20. Begriche K, Igoudjil A, Pessayre D, Fromenty B. Mitochondrial dysfunction in NASH: Causes, consequences and possible means to prevent it. Mitochondrion. 2006;6(1):1-28. doi: 10.1016/j.mito.2005.10.004. [PubMed: 16406828].
  • 21. Seyedhassani SM, Houshmand M, Kalantar SM, Modabber G, Aflatoonian A. No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss. J Assist Reprod Genet. 2010;27(11):641-8. doi: 10.1007/s10815-010-9435-2. [PubMed: 20499271]. [PubMed Central: PMC2995430].
  • 22. Zabihi Diba L, Mohaddes Ardebili SM, Gharesouran J, Houshmand M. Age-related decrease in mtDNA content as a consequence of mtDNA 4977 bp deletion. Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(4):3008-12. doi: 10.3109/19401736.2015.1063046. [PubMed: 26152346].
  • 23. Bandelt HJ, Salas A, Bravi CM. What is a 'novel' mtDNA mutation--and does 'novelty' really matter? J Hum Genet. 2006;51(12):1073-82. doi: 10.1007/s10038-006-0066-5. [PubMed: 17021933].
  • 24. Miquel J. An update on the mitochondrial-DNA mutation hypothesis of cell aging. Mutat Res. 1992;275(3-6):209-16. [PubMed: 1383762].
  • 25. von Wurmb N, Oehmichen M, Meissner C. Demonstration of the 4977 bp deletion in human mitochondrial DNA from intravital and postmortem blood. Mutat Res. 1998;422(2):247-54. [PubMed: 9838148].
  • 26. Kato T, Winokur G, McMahon FJ, DePaulo JR, Crowe RR. Quantitative analysis of leukocyte mitochondrial DNA deletion in affective disorders. Biol Psychiatry. 1997;42(5):311-6. doi: 10.1016/S0006-3223(96)00377-0. [PubMed: 9276070].
  • 27. Kamfar S, Alavian SM, Houshmand M, Yadegarazari R, Seifi Zarei B, Khalaj A, et al. Liver mitochondrial DNA copy number and deletion levels may contribute to nonalcoholic fatty liver disease susceptibility. Hepat Mon. 2016;16(12). e40774. doi: 10.5812/hepatmon.40774. [PubMed: 28123441]. [PubMed Central: PMC5237470].
  • 28. Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, et al. What causes mitochondrial DNA deletions in human cells? Nat Genet. 2008;40(3):275-9. doi: 10.1038/ng.f.94. [PubMed: 18305478].
  • 29. Lievre A, Chapusot C, Bouvier AM, Zinzindohoue F, Piard F, Roignot P, et al. Clinical value of mitochondrial mutations in colorectal cancer. J Clin Oncol. 2005;23(15):3517-25. doi: 10.1200/JCO.2005.07.044. [PubMed: 15908662].
  • 30. Ye C, Shu XO, Pierce L, Wen W, Courtney R, Gao YT, et al. Mutations in the mitochondrial DNA D-loop region and breast cancer risk. Breast Cancer Res Treat. 2010;119(2):431-6. doi: 10.1007/s10549-009-0397-y. [PubMed: 19381801]. [PubMed Central: PMC2796283].
  • 31. Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, et al. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. Biochem Biophys Res Commun. 2011;411(2):247-52. doi: 10.1016/j.bbrc.2011.06.106. [PubMed: 21723259].
  • 32. Schmuczerova J, Brdicka R, Dostal M, Sram RJ, Topinka J. Genetic variability of HVRII mtDNA in cord blood and respiratory morbidity in children. Mutat Res. 2009;666(1-2):1-7. doi: 10.1016/j.mrfmmm.2009.03.002. [PubMed: 19481673].
  • 33. Zhou J, Gou H, Ye Y, Zhou Y, Lu X, Ying B. Sequence variations of mitochondrial DNA D-loop region in patients with acute myeloid leukemia. Oncol Lett. 2017;14(5):6269-76. doi: 10.3892/ol.2017.6988. [PubMed: 29113277]. [PubMed Central: PMC5661391].
  • 34. Mousavizadeh K, Rajabi P, Alaee M, Dadgar S, Houshmand M. Usage of mitochondrial D-loop variation to predict risk for Huntington disease. Mitochondrial DNA. 2015;26(4):579-82. doi: 10.3109/19401736.2013.878902. [PubMed: 24471944].
  • 35. Navaglia F, Basso D, Fogar P, Sperti C, Greco E, Zambon CF, et al. Mitochondrial DNA D-loop in pancreatic cancer: Somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome. Am J Clin Pathol. 2006;126(4):593-601. doi: 10.1309/GQFCCJMH5KHNVX73. [PubMed: 16938655].
  • 36. Barthelemy C, de Baulny HO, Lombes A. D-loop mutations in mitochondrial DNA: Link with mitochondrial DNA depletion? Hum Genet. 2002;110(5):479-87. doi: 10.1007/s00439-002-0708-4. [PubMed: 12073019].
  • 37. Coskun PE, Beal MF, Wallace DC. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A. 2004;101(29):10726-31. doi: 10.1073/pnas.0403649101. [PubMed: 15247418]. [PubMed Central: PMC490002].
  • 38. Li S, Wan P, Peng T, Xiao K, Su M, Shang L, et al. Associations between sequence variations in the mitochondrial DNA D-loop region and outcome of hepatocellular carcinoma. Oncol Lett. 2016;11(6):3723-8. doi: 10.3892/ol.2016.4466. [PubMed: 27313683]. [PubMed Central: PMC4888226].
  • 39. Govatati S, Deenadayal M, Shivaji S, Bhanoori M. Mitochondrial displacement loop alterations are associated with endometriosis. Fertil Steril. 2013;99(7):1980-6 e9. doi: 10.1016/j.fertnstert.2013.02.021. [PubMed: 23490167].
  • 40. Chomyn A, Attardi G. MtDNA mutations in aging and apoptosis. Biochem Biophys Res Commun. 2003;304(3):519-29. [PubMed: 12729587].
  • 41. Khrapko K, Coller HA, Andre PC, Li XC, Hanekamp JS, Thilly WG. Mitochondrial mutational spectra in human cells and tissues. Proc Natl Acad Sci U S A. 1997;94(25):13798-803. [PubMed: 9391107]. [PubMed Central: PMC28387].
  • 42. Tang M, Baez S, Pruyas M, Diaz A, Calvo A, Riquelme E, et al. Mitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma. Clin Cancer Res. 2004;10(3):1041-6. [PubMed: 14871983].
  • 43. Lutz S, Weisser HJ, Heizmann J, Pollak S. A third hypervariable region in the human mitochondrial D-loop. Hum Genet. 1997;101(3):384. [PubMed: 9439673].
  • 44. Szibor R, Michael M, Spitsyn VA, Plate I, Ginter EK, Krause D. Mitochondrial D-loop 3' (CA)n repeat polymorphism: Optimization of analysis and population data. Electrophoresis. 1997;18(15):2857-60. doi: 10.1002/elps.1150181523. [PubMed: 9504821].
  • 45. Richard SM, Bailliet G, Paez GL, Bianchi MS, Peltomaki P, Bianchi NO. Nuclear and mitochondrial genome instability in human breast cancer. Cancer Res. 2000;60(15):4231-7. [PubMed: 10945635].
  • 46. Ye C, Gao YT, Wen W, Breyer JP, Shu XO, Smith JR, et al. Association of mitochondrial DNA displacement loop (CA)n dinucleotide repeat polymorphism with breast cancer risk and survival among Chinese women. Cancer Epidemiol Biomarkers Prev. 2008;17(8):2117-22. doi: 10.1158/1055-9965.EPI-07-2798. [PubMed: 18708405]. [PubMed Central: PMC2643086].

Featured Image:

Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments