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

Journal of the Neurological Sciences

Volumn 264, Issue 1-2, 2008, Pages 18-21

  Liu, Chin San ^a,b   Cheng, Wen Ling ^a   Kuo, Shou Jen ^a   Li, Jie Yuan ^c,d   Soong, Bing Wen ^d,e   Wei, Yau Huei ^d  

^a CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

CAG repeat numbers; Copy number; Leukocyte; Mitochondrial DNA; Neurodegenerative disorders; Polyglutamine

Indexed keywords

BIOLOGICAL MARKER; MITOCHONDRIAL DNA; POLYGLUTAMINE;

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE SEVERITY; DNA CONTENT; FEMALE; HUMAN; HUNTINGTON CHOREA; KENNEDY DISEASE; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL DNA DEPLETION; OXIDATIVE STRESS; POLYGLUTAMINE DISEASE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DOWN-REGULATION; FEMALE; GENE DOSAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; HUNTINGTON DISEASE; LEUKOCYTES; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; MUTATION; OXIDATIVE STRESS; PEPTIDES; PREDICTIVE VALUE OF TESTS; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 36549034748     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.07.016     Document Type: Article

References (17)

1. Giuliano P., De Cristofaro T., Affaitati A., Pizzulo G.M., Feliciello A., Criscuolo C., et al. DNA damage induced by polyglutamine-expanded proteins. Hum Mol Genet 12 (2003) 2301-2309
2. Panov A.V., Gutekunst1 C.A., Leavitt B.R., Hayden M.R., Burke J.R., Strittmatter W.J., et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci 5 (2002) 731-736
3. Ducluzeau P.H., Lachaux A., Bouvier R., Streichenberger N., Stepien G., and Mousson B. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 30 (1999) 149-155
4. Yano S., Li L., Le T.P., 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 26 (2003) 481-488
5. Mancuso M., Filosto M., Bonilla E., Hirano M., Shanske S., Vu T.H., et al. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol 60 (2003) 1007-1009
6. Miro O., Lopez S., Cardellach F., and Casademont J. Mitochondrial studies in HAART-related lipodystrophy: from experimental hypothesis to clinical findings. Antivir Ther 10 suppl 2 (2005) M73-M81
7. Kang D., and Hamasaki N. Alterations of mitochondrial DNA in common diseases and disease states: aging, neurodegeneration, heart failure, diabetes, and cancer. Curr Med Chem 12 (2005) 429-441
8. Liu C.S., Tsai C.S., Kuo C.L., Chen H.W., Lii C.K., Ma Y.S., et al. Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes. Free Radic Res 37 (2003) 1307-1317
9. Tsai H.F., Liu C.S., Leu T.M., Wen F.C., Lin S.J., Liu C.C., et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand 109 (2004) 355-360
10. Liu C.S., Chang Y.C., Chen D.F., Huang C.C., Pang C.Y., Lee H.C., 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 92 (1995) 398-404
11. Chabi B., Mousson de Camaret B., Duborjal H., Issartel J.P., and Stepien G. Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis. Clin Chem 49 (2003) 1309-1317
12. Liu C.S., Cheng W.L., Lee C.F., Ma Y.S., Lin C.Y., Huang C.C., et al. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Acta Neurol Scand 113 (2006) 334-341
13. Wong A., and Cortopassi G. Reproducible quantitative PCR of mitochondrial and nuclear DNA copy number using the LightCycler. Methods Mol Biol 197 (2002) 129-137
14. Pogozelski W.K., Hamel C.J., Woeller C.F., Jackson W.E., Zullo S.J., 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 2 (2003) 415-427
15. Andersen J.K. Oxidative stress in neurodegeneration: cause or consequence?. Nat Med 10 (2004) S18-S25
16. Tsai H.F., Tsai H.J., and Hsieh M.L. Full-length expanded ataxin-3 enhances mitochondrial-mediated cell death and decreases Bcl-2 expression in human neuroblastoma cells. Biochem Biophys Res Commun 324 (2004) 1274-1282
17. Gardian G., and Vecsei L. Huntington's disease: pathomechanism and therapeutic perspectives. J Neural Transm 111 (2004) 1485-1494