logo
    Werner Syndrome
    49
    Citation
    87
    Reference
    10
    Related Paper
    Citation Trend
    Abstract:
    Werner syndrome is a premature aging disease caused by the mutation in the WRN gene. The cloning and characterization of the WRN gene and its product allows investigators to study the disease and the human aging process at molecular level. This review summarizes the recent progresses on various aspects of the WRN research including functional analysis of the protein, interactive cloning, complexes formation, mouse models, and SNPs (single nucleotide polymorphisms). These in depth investigations have greatly advanced our understanding of the disease and elucidated future research direction for Werner syndrome and the human aging process.
    Keywords:
    Werner syndrome
    Premature aging
    Positional cloning
    Cloning (programming)
    History and clinical aspects of Werner syndrome: a brief history of research on the Werner syndrome, Martin, G.M. the search for the Werner syndrome gene, Drayna, D. prevalence of Werner syndrome gene mutations in the Japanese population - a genetic epidemiological study, Satoh, M., Matsumoto, T., Imai, M. et al. clinical characteristics of Werner syndrome and other premature aging syndromes - pattern of aging in progeroid syndromes, Goto, M. pathology - Werner syndrome and normal aging, Masuda, T., Akasaka, Y., Ito, K. et al. dermatological features and collagen metabolism in Werner syndrome, Hatamochi, A. atherosclerosis in Werner syndrome, Murano, S. nervous system disorders in Werner syndrome, Kuroda, Y. thyroid carcinoma and bone sarcoma in Werner syndrome, Ishikawa, Y.. Genes and basic aspects of werner Syndrome: cancer pathogenesis in the human RecQ helicase deficiency syndromes, Monnat Jr., R.J. filling in some gaps about Werner syndrome, Miller, R.W. chromosomal changes in premature aging syndromes, Nichols, W.W. phenotypes of cells with a WRN gene mutation, Sugimoto, M., Goto, M., Furuichi, Y. functions of the WRN helicase protein, Oshima, J. WRN homologues in non-human systems, Kang, S.-W., Ikeda, H. involvement of telomere shortening and telomerase in cell aging and immortalization, Tahara, H., Ide, T., Afshari, C., Barrett, J.C.
    Werner syndrome
    Premature aging
    Progeria
    Chromosome instability
    Citations (31)
    Werner syndrome (WS) is a rare autosomal recessive disorder in humans characterized by segmental premature aging. Somatic cells from WS individuals show low replicative capacity, hypersensitivity to DNA-damaging agents, increased genome instability, and altered telomere maintenance (1). The incidence of sarcomas is significantly higher in WS patients than in normal individuals (1). Genetic evidence indicates that WS is caused by loss of function mutations in the WRN gene, which encodes a protein that belongs to the RecQ family of DNA helicases. Polymorphisms in WRN have been demonstrated to be associated with breast cancer (2) and soft tissue sarcomas (3,4). The WRN gene has been cloned and the properties of WS cells and WRN protein have been studied extensively. Nevertheless, the pathophysiology of WS and the cellular and molecular mechanisms involved in WS pathogenesis remain poorly understood. Because WS is a progerioid disease, it is used as a model system to better understand the process of aging in humans.
    Werner syndrome
    Premature aging
    Chromosome instability
    Bloom syndrome
    Pathogenesis
    Genetic disorder