Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 18-21 , 15 January 2008

Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases

  • Chin-San Liu

      Affiliations

    • Department of Neurology and Vascular and Genomic Center, Changhua Christian Hospital, Changhua 500, Taiwan
    • Graduate Institute of Integrative Chinese and Western Medicine, China Medical University Hospital, Taichung 404, Taiwan
    • Corresponding Author InformationCorresponding authors. Liu is to be contacted at Department of Neurology & Vascular and Genomics Center, Changhua Christian Hospital, 135 Nanhsiao Street, Changhua 500, Taiwan. Tel.: +886 4 7238595x4752; fax: +886 4 7238595x4063. Wei, Tel.: +886 2 28267118; fax: +886 2 28264843.
    • ,
  • Wen-Ling Cheng

      Affiliations

    • Department of Neurology and Vascular and Genomic Center, Changhua Christian Hospital, Changhua 500, Taiwan
    • ,
  • Shou-Jen Kuo

      Affiliations

    • Department of Surgery, Changhua Christian Hospital, Changhua 500, Taiwan
    • ,
  • Jie-Yuan Li

      Affiliations

    • Division of Neurology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
    • National Yang-Ming University, Taipei 112, Taiwan
    • ,
  • Bing-Wen Soong

      Affiliations

    • Department of Neurology, National Yang-Ming University, Taipei 112, Taiwan
    • Neurological Institute, Taipei Veterans General Hospital, Taipei 112, Taiwan
    • ,
  • Yau-Huei Wei

      Affiliations

    • Department of Biochemistry and Molecular Biology, School of Life Sciences, National Yang-Ming University, Taipei 112, Taiwan
    • Corresponding Author InformationCorresponding authors. Liu is to be contacted at Department of Neurology & Vascular and Genomics Center, Changhua Christian Hospital, 135 Nanhsiao Street, Changhua 500, Taiwan. Tel.: +886 4 7238595x4752; fax: +886 4 7238595x4063. Wei, Tel.: +886 2 28267118; fax: +886 2 28264843.

Received 3 May 2007 ,Revised 4 July 2007 ,Accepted 9 July 2007.

References 

  1. Giuliano P, De Cristofaro T, Affaitati A, Pizzulo GM, Feliciello A, Criscuolo C, et al. DNA damage induced by polyglutamine-expanded proteins. Hum Mol Genet. 2003;12:2301–2309
  2. Panov AV, Gutekunst1 CA, Leavitt BR, Hayden MR, Burke JR, Strittmatter WJ, et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci. 2002;5:731–736
  3. Ducluzeau PH, Lachaux A, Bouvier R, Streichenberger N, Stepien G, Mousson B. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol. 1999;30:149–155
  4. Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, et al. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis. 2003;26:481–488
  5. Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, et al. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol. 2003;60:1007–1009
  6. Miro O, Lopez S, Cardellach F, Casademont J. Mitochondrial studies in HAART-related lipodystrophy: from experimental hypothesis to clinical findings. Antivir Ther. 2005;10(suppl 2):M73–M81
  7. Kang D, Hamasaki N. Alterations of mitochondrial DNA in common diseases and disease states: aging, neurodegeneration, heart failure, diabetes, and cancer. Curr Med Chem. 2005;12:429–441
  8. Liu CS, Tsai CS, Kuo CL, Chen HW, Lii CK, Ma YS, et al. Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes. Free Radic Res. 2003;37:1307–1317
  9. Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand. 2004;109:355–360
  10. Liu CS, Chang YC, Chen DF, Huang CC, Pang CY, Lee HC, et al. Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease. Acta Neurol Scand. 1995;92:398–404
  11. Chabi B, Mousson de Camaret B, Duborjal H, Issartel JP, Stepien G. Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis. Clin Chem. 2003;49:1309–1317
  12. Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, et al. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Acta Neurol Scand. 2006;113:334–341
  13. Wong A, Cortopassi G. Reproducible quantitative PCR of mitochondrial and nuclear DNA copy number using the LightCycler. Methods Mol Biol. 2002;197:129–137
  14. Pogozelski WK, Hamel CJ, Woeller CF, Jackson WE, Zullo SJ, Fischel-Ghodsian N, et al. Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5′-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards. Mitochondrion. 2003;2:415–427
  15. Andersen JK. Oxidative stress in neurodegeneration: cause or consequence?. Nat Med. 2004;10:S18–S25
  16. Tsai HF, Tsai HJ, Hsieh ML. Full-length expanded ataxin-3 enhances mitochondrial-mediated cell death and decreases Bcl-2 expression in human neuroblastoma cells. Biochem Biophys Res Commun. 2004;324:1274–1282
  17. Gardian G, Vecsei L. Huntington's disease: pathomechanism and therapeutic perspectives. J Neural Transm. 2004;111:1485–1494

PII: S0022-510X(07)00480-7

doi: 10.1016/j.jns.2007.07.016

Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 18-21 , 15 January 2008

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