| | |  | | | | Record from Web of Science® | | | | | | |
| Hutchinson-Gilford progeria syndrome |
|
|
| Author(s): Pollex RL, Hegele RA |
| Source: CLINICAL GENETICS Volume: 66 Issue: 5 Pages: 375-381 Published: NOV 2004 |
| Times Cited: 36 References: 47 |
| Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the Lmna gene have been found in individuals with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope. The most common HGPS mutation is located at codon 608 (G608G). This mutation creates a cryptic splice site within exon 11, which deletes a proteolytic cleavage site within the expressed mutant lamin A. Incomplete processing of prelamin A results in nuclear lamina abnormalities that can be observed in immunofluorescent studies of HGPS cells. Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria. Lmna mutations have also recently been found in patients with atypical forms of progeria. The discovery of the HGPS mutations brings the total number of diseases caused by mutant Lmna to nine, underscoring the astonishing spectrum of laminopathies. Future research into HGPS could also provide important clues about the general process of aging and aging-related diseases. |
| Document Type: Review |
| Language: English |
| Reprint Address: Hegele, RA (reprint author), John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, 406-100 Perth Dr, London, ON N6A 5K8 Canada |
Addresses:
1. John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8 Canada |
| Publisher: BLACKWELL MUNKSGAARD, 35 NORRE SOGADE, PO BOX 2148, DK-1016 COPENHAGEN, DENMARK |
| Subject Category: Genetics & Heredity |
| IDS Number: 861RA |
| ISSN: 0009-9163 |
| DOI: 10.1111/j.1399-0004.2004.00315.x |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |