Premature aging syndromes often result from mutations in nuclear proteins involved in genomic integrity. For example Hutchinson-Gilford progerial syndrome (HGPS), a severe form of early-onset premature aging, is caused by truncation in the protein lamin A. Lamin A is a nuclear protein important for chromatin attachment, DNA replication and nuclear organization. Lack of an enzyme responsible for the maturation of prelamin A, also results in progeroid phenotypes in mice and humans.
In Nature Medicine Online researchers at Karolinska Institutet and the University of Hong Kong describe this enzyme’s importance for the stability of DNA. The results indicate that mutations in prelamin A and lamin A perturb DNA damage response and repair, resulting in genomic instability which might contribute to certain types of premature aging.
Dr Zhongjun Zhou started this research during his period as doctoral student at Karolinska Institutet. After his dissertation 2004 he has continued the research at the University of Hong Kong.
For information, please contact:
Professor Karl Tryggvason, Karolinska Institutet, phone 46 8 524 877 55 or mail karl.tryggvason@mbb.ki.se
Publication:
Genomic instability in laminopathy-based premature aging
Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang J, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadinanos J, Lopez-Otin C, Tse HF, Hutchinson C, Chen J, Cao Y, Cheah KSE, Tryggvason K, Zhou Z.
Nature Medicine Online 26 June, 2005.
