Advances in the study of Hutchinson-Gilford progeria syndrome

Objective:Hutchinson-Gilford progeria syndrome(HGPS) is an rare,dominantly inherited genetic disorder(incidence 1 in 8 million) that causes rapid aging shortly after birth.Patients died at average age of 13,usually because of myocardial infarction or stroke.However,patients do not show any increase in tumor and other features often associated with normal aging.The most common HGPS mutation is located at codon 608(G608G)within exon 11 on chromosome 1.Alterations of nuclear structure and disruption ot lamin-related functions happen due to a concentration-dependent dominant-negative effect of mutant jamin A.There have been several mouse models.Development on HGPS treatment now can reverse the nuclear morphology defect in cells from HGPS patients in vitro.Future research into HGPS will provide important clues about the general process of aging and cardiovascular diseases.