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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 24, 2013 - Issue 1
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Short Communication

A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy

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Pages 46-49 | Received 24 May 2012, Accepted 27 Jul 2012, Published online: 07 Sep 2012

References

  • Albanesi FFM. 2005. What is the current scenario for heart failure in Brazil?. Arq Bras Cardiol. 85:155–156.
  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 23:147.
  • Ballinger SW. 2005. Mitochondrial dysfunction in cardiovascular disease. Free Radic Biol Med. 38 10: 1278–1295.
  • Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. 2009. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol. 66 3: 399–402.
  • Blum A. 2009. Heart failure—new insights. IMAJ. 11:105–111.
  • Brandon M, Baldi P, Wallace DC. 2006. Mitochondrial mutations in cancer. Oncogene. 25:4647–4662.
  • Brockington M, Sweeney MG, Hammans SR, Morgan-Hughes JA, Harding AE. 1993. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nat Genet. 4:67–71.
  • Brulé H, Holmes WM, Keith G, Giege´ R, Florentz C. 1998. Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern. Nucleic Acids Res. 26 2: 537–543.
  • Budowle B, Allard MW, Wilson MR, Chakraborty R. 2003. Forensics and mitochondrial DNA: Applications, debates, and foundations. Annu Rev Genomics Hum Genet. 4:119–141.
  • Coskun P, Wyrembak J, Schriner S, Chen HW, Marciniack C, Laferla F, Wallace DC. 2012. A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta. 1820 5: 553–564.
  • Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. 2009. A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet. 17 8: 1092–1096.
  • Elango S, Govindaraj P, Vishwanadha VP, Reddy AG, Tamang R, Muthusami U, Kunnoth S, Koyilil VK, Lakshman M, Shanmugasundharam N, Singh L, Thangaraj K. 2011. Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension. Mitochondrion. 11 6: 878–885.
  • Grasbon-Frodl EM, Kösel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB. 1999. Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. Neurogenetics. 2 2: 121–127.
  • Hung WY, Lin JC, Lee LM, Wu CW, Tseng LM, Yin PH, Chi CW, Lee HC. 2008. Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region. Mutagenesis. 23 2: 137–142.
  • Ionasescu VV, Hart M, DiMauro S, Moraes CT. 1994. Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene. Neurology. 44 5: 975–977.
  • Kofler B, Mueller EE, Eder W, Stanger O, Maier R, Weger M, Haas A, Winker R, Schmut O, Paulweber B, Iglseder B, Renner W, Wiesbauer M, Aigner I, Santic D, Zimmermann FA, Mayr JA, Sperl W. 2009. Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: A case control study. BMC Med Genet. 10 35: 1–7.
  • Krishnan N, Dickman MB, Becker DF. 2008. Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress. Free Radic Biol Med. 44 4: 671–681.
  • Lee HR, Johnson K. 2006. Fidelity of the human mitochondrial DNA polymerase. J Biol Chem. 281 47 36236–36240.
  • Lindenfeld J, Albert NM, Boehmer JP, Collins SP, Ezekowitz JA, Givertz MM, Katz SD, Klapholz M, Moser DK, Rogers JG, Starling RC, Stevenson WG, Tang WH, Teerlink JR, Walsh MN. 2010. Executive summary: HFSA 2010 comprehensive heart failure practice guideline. J Card Fail. 16:475–539.
  • Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. 1993. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet. 4 3: 284–288.
  • Seneca S, Ceuterik-De Groote C, Van Coster R, De Meirleir L. 2000. A novel mitochondrial transfer RNA proline mutation. J Inherit Metab Dis. 23 8: 853–854.
  • Takagi K, Yamada Y, Gong JS, Sone T, Yokota M, Tanaka M. 2004. Association of a 5178C → A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals. Hum Genet Atheroscler. 175:281–286.
  • Tengan CH, Ferreiro-Barros C, Cardeal M, Fireman MA, Oliveira AS, Kiyomoto BH, Gabbai AA. 2002. Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochim Biophys Acta. 1588 1: 65–70.
  • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. 1994. Mitochondria DNA and the origin of Caucasians. Identification of ancient Caucasian- specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 55:760–776.
  • Tsutsui H. 2006. Mitochondrial oxidative stress and heart failure. Intern Med. 45 13: 809–813.
  • Wei YL, Yu CA, Yang P, Li AL, Wen JY, Zhao SM, Liu HX, Ke YN, Campbell W, Zhang YG, Li XH, Liao WQ. 2009. Novel mitochondrial DNA mutations associated with Chinese familial hypertrophic cardiomyopathy. Clin Exp Pharmacol Physiol. 36 9: 933–939.
  • Wittenhagen LM, Kelley SO. 2003. Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem Sci. 28 11: 605–611.
  • Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A. 2002. A cystic fibrosis patient with two novel mutations in mitochondrial DNA: Mild disease led to delayed diagnosis of both disorders. Am J Med Genet. 113 1: 59–64.
  • Zhu HY, Wang SW, Martin LJ, Liu L, Li YH, Chen R, Wang L, Zhang ML, Benson DW. 2009. The role of mitochondrial genome in essential hypertension in a Chinese Han population. Eur J Hum Genet. 17 11: 1501–1506.

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