Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2011 Nov-Dec;2(6):517-22.
doi: 10.4161/nucl.2.6.17605. Epub 2011 Nov 1.

Progeria Research Day at Brunel University

Joanna M Bridger  1 , Christopher H Eskiw, Evgeny M Makarov, David Tree, Ian R Kill
Affiliations
Review

Progeria Research Day at Brunel University

Joanna M Bridger et al. Nucleus. 2011 Nov-Dec.

Abstract

Hutchinson-Gilford Progeria Syndrome (HGPS) is a severe premature aging syndrome that affects children. These children display characteristics associated with normal aging and die young usually from cardiovascular problems or stroke. Classical HGPS is caused by mutations in the gene encoding the nuclear structural protein lamin A. This mutation leads to a novel version of lamin A that retains a farnesyl group from its processing. This protein is called Progerin and is toxic to cellular function. Pre-lamin A is an immature version of lamin A and also has a farnesylation modification, which is cleaved in the maturation process to create lamin A.

PubMed Disclaimer

Figures

None
Figure 1. Prof. Nico Lévy presenting his keynote lecture to the Progeria Research Day at Brunel University.
None
Figure 2. Miss Hayley Okines speaking to the Progeria Research Day audience.
None
Figure 3. Speakers at the Progeria Research Day. From left to right Prof. Nicolas Lévy, Dr. Joanna Bridger, Prof. Cathy Shanahan, Dr. Ian Kill, Dr. David Vaux, Prof. Christopher Hutchison, Dr. Christopher Eskiw and Dr. David Tree.
See this image and copyright information in PMC

References

    1. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008;358:592–604. doi: 10.1056/NEJMoa0706898. - DOI - PMC - PubMed
    1. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003;300:2055. doi: 10.1126/science.1084125. - DOI - PubMed
    1. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293–8. doi: 10.1038/nature01629. - DOI - PMC - PubMed
    1. Cao H, Hegele RA. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090) J Hum Genet. 2003;48:271–4. doi: 10.1007/s10038-003-0025-3. - DOI - PubMed
    1. Worman HJ, Ostlund C, Wang Y. Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol. 2010;2:a000760. doi: 10.1101/cshperspect.a000760. - DOI - PMC - PubMed

LinkOut - more resources