caa a22 4500 475846257 CHVBK 20180406123915.0 cr unu---uuuuu 170329e20000501xx s 000 0 eng 10.1007/s000180050036 doi (NATIONALLICENCE)springer-10.1007/s000180050036 Helicases and aging [Elektronische Daten] [J. Nakura*, L. Ye, A. Morishima, K. Kohara, T. Miki] Abstract.: Studying monogenic hereditary disorders that manifest age-related phenotypes in cells, tissues, and the total organism would be helpful for clarifying the mechanisms of aging. In this context, seven human disorders that manifest age-related phenotypes have been found to be caused by aberrations of five proteins with seven helicase motifs conserved in most of the helicases. These disorders are xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, Bloom syndrome, Werner syndrome, X-linked α -thalassemia/mental retardation syndrome, and Juberg-Marsidi syndrome. A decline of probably pleiotropic and fundamental function of helicases in these disorders is, therefore, implied to underlie not only the various age-related phenotypes of the disorders but also the pleiotropic and universal nature of ordinary aging. Consistent with this implication, studies of these seven disorders suggest that their various age-related phenotypes are caused by aberrations in multiple processes, especially transcription. Furthermore, a few studies imply some association between aberration of the helicases and phenotypes in ordinary aging. Birkhäuser Verlag Basel,, 2000 Key words. Helicase disorder nationallicence aging nationallicence Werner syndrome nationallicence Cockayne syndrome nationallicence Bloom syndrome nationallicence transcription nationallicence segmental progeroid syndrome nationallicence Nakura* J. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut Ye L. Department of Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 (Canada), CA aut Morishima A. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut Kohara K. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut Miki T. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut https://doi.org/10.1007/s000180050036 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s000180050036 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nakura* J. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut NATIONALLICENCE 700 1- Ye L. Department of Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 (Canada), CA aut NATIONALLICENCE 700 1- Morishima A. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut NATIONALLICENCE 700 1- Kohara K. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut NATIONALLICENCE 700 1- Miki T. Department of Geriatric Medicine, School of Medicine, Ehime University, Shigenobu, Onsen-gun, Ehime 791-0295 (Japan), Fax +81 89 960 5852, e-mail: nakura@m.ehime-u.ac.jp, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer