|Aging Phenotype||Shortened life-span|
|Description||A C to T transition at nucleotide 1824 of the LMNA gene is associated with Hutchinson-Gilford progeria syndrome (HGPS) (Sandre-Giovannoli et al., 2003; Eriksson et al., 2003).|
The median age of death in HGPS patients is 13.4 years.
|Gene Function||Components of nuclear laminae.|
|Other Phenotypes||HGPS is characterized by prematurely senile appearing skin and hair, with death from coronary artery disease often by age 10 (Gilford 1904; Hutchinson 1886).|
Cultured skin fibroblasts from patients with progeria show an increased fraction of heat-labile proteins (Goldstein and Moerman, 1978).
The 1824C-T allele appears to act in a dominant negative manner by interfering with normal splicing, resulting in production of both the normal length transcript and a transcript deleted for 150 bp at the 3` end (Sandre-Giovannoli et al., 2003).
|Homologs||R.n. LMNA, LMNB1,|
H.s. LMNB1, LMNB2
M.m LMNA, LMNB1, LMNB2, LMNB3 ...
D.m. LAM, LAMC
|Primary Reference||Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Pierre Cau, Claire Navarro, Jeanne Amiel, Irčne Boccaccio, Stanislas Lyonnet, Colin L. Stewart, Arnold Munnich, Martine Le Merrer, and Nicolas Lévy. Lamin A Truncation in Hutchinson-Gilford Progeria. |
Maria Eriksson, W. Ted Brown, Leslie B. Gordon, Michael W. Glynn, Joel Singer, Laura Scott, Michael R. Erdos, Christiane M. Robbins, Tracy Y. Moses, Peter Berglund, Amalia Dutra, Evgenia Pak, Sandra Durkin, Antonei B. Csoka, Michael Boehnke, Thomas W. Glo
|Other References||Gilford (1904). Ateleiosis and progeria: continuous youth and premature old age. Brit Med J 2, 914-918.|
Hutchinson, J. (1886). Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1, 923.
Goldstein, S.; Moerman, E. J. (1975). Heat-labile enzymes in skin fibroblasts from subjects with progeria. New Eng. J. Med. 292, 1305-1309. [Abstract]
|Relevant Links||OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?176670|
|Keywords||Homo, sapiens, human, progeria, premature aging, accelerated aging|