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Human Premature Aging Diseases

  • Dai-Di Gan
  • Mohammad Hedayati
  • Tinna Stevnsner
  • Vilhelm A. Bohr
Chapter
  • 916 Downloads

Abstract

A number of rare human disorders are associated with distinct clinical features that resemble the aging process at an early stage in life. The study of these conditions has greatly advanced our insight into the aging process. Here, we discuss the clinical and molecular characteristics as well as the recent advances in our insight into the mechanisms of dysfunction in these diseases

Keywords

Aging DNA repair Werner syndrome premature aging 

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References

  1. Christiansen, M., Thorslund, T., Jochimsen, B., Bohr, V.A. and Stevnsner, T. (2005) The Cockayne syndrome group B protein is a functional dimer. FEBS J., 272: 4306–14.PubMedCrossRefGoogle Scholar
  2. Citterio, E., Rademakers, S., van der Horst, G.T., van Gool, A.J., Hoeijmakers, J.H. and Vermeulen, W. (1998) Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. J Biol Chem., 273: 11844–51.PubMedCrossRefGoogle Scholar
  3. Citterio, E., Van Den Boom, V., Schnitzler, G., Kanaar, R., Bonte, E., Kingston, R.E., Hoeijmakers, J.H. and Vermeulen, W. (2000) ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. Mol Cell Biol., 20: 7643–53.PubMedCrossRefGoogle Scholar
  4. Cleaver, J.E., Thompson, L.H., Richardson, A.S. and States, J.C. (1999) A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Hum Mutat., 14: 9–22.PubMedCrossRefGoogle Scholar
  5. Colella, S., Nardo, T., Botta, E., Lehmann, A.R. and Stefanini, M. (2000) Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet., 9: 1171–5.PubMedCrossRefGoogle Scholar
  6. Constantinou, A., Tarsounas, M., Karow, J.K., Brosh, R.M., Bohr, V.A., Hickson, I.D. and West, S.C. (2000) Werner’s syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest. EMBO Rep., 1: 80–4.PubMedCrossRefGoogle Scholar
  7. Crabbe, L., Verdun, R.E., Haggblom, C.I. and Karlseder, J. (2004) Defective telomere lagging strand synthesis in cells lacking WRN helicase activity. Science., 306: 1951–3.PubMedCrossRefGoogle Scholar
  8. Csoka, A.B., Cao, H., Sammak, P.J., Constantinescu, D., Schatten, G.P. and Hegele, R.A. (2004) Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet., 41: 304–8.PubMedCrossRefGoogle Scholar
  9. Csoka, A.B., English, S.B., Simkevich, C.P., Ginzinger, D.G., Butte, A.J., Schatten, G.P., Rothman, F.G. and Sedivy, J.M. (2004) Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell., 3: 235–43.PubMedCrossRefGoogle Scholar
  10. D’Amours, D. and Jackson, S.P. (2002) The Mre11 complex: at the crossroads of dna repair and checkpoint signalling. Nat Rev Mol Cell Biol., 3: 317–27.PubMedCrossRefGoogle Scholar
  11. D’Errico, M., Teson, M., Calcagnile, A., Nardo, T., De Luca, N., Lazzari, C., Soddu, S., Zambruno, G., Stefanini, M. and Dogliotti, E. (2005) Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes. Cancer Res., 65: 432–8.PubMedGoogle Scholar

Copyright information

© Springer 2006

Authors and Affiliations

  • Dai-Di Gan
    • 1
  • Mohammad Hedayati
    • 1
  • Tinna Stevnsner
    • 2
  • Vilhelm A. Bohr
    • 1
  1. 1.Laboratory of Molecular GerontologyNational Institute on AgingNIHUSA
  2. 2.Department of Molecular BiologyAarhus UniversityDenmark

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