Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.

ABSTRACT: Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from dramatic acceleration of some symptoms associated with normal aging, most notably cardiovascular disease that eventually leads to death from myocardial infarction and/or stroke usually in their second decade of life. For the vast majority of cases, a de novo point mutation in the lamin A (LMNA) gene is the cause of HGPS. This missense mutation creates a cryptic splice donor site that produces a mutant lamin A protein, termed "progerin," which carries a 50-aa deletion near its C terminus. We have created a mouse model for progeria by generating transgenics carrying a human bacterial artificial chromosome that harbors the common HGPS mutation. These mice develop progressive loss of vascular smooth muscle cells in the media

SUBMITTER: Varga R 

PROVIDER: S-EPMC1413943 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature