Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.

摘要: Hutchinson–Gilford progeria syndrome (HGPS; Online Mendelian Inheritance in Man accession no. 176670) is a rare disorder that characterized by segmental premature aging and death between 7 20 years of age from severe atherosclerosis. Mutations the LMNA gene are responsible for this syndrome. Approximately 80% HGPS cases caused G608 (GGC→GGT) mutation within exon 11 LMNA, which elicits deletion 50 aa near C terminus prelamin A. In article, we present evidence mutant lamin A (progerin) accumulates nucleus cellular age-dependent manner. human fibroblast cultures, observed, concomitantly to nuclear progerin accumulation, envelope deformations invaginations preventable farnesyltransferase inhibition. Nuclear alterations affect cell-cycle progression cell migration elicit senescence. Strikingly, skin biopsy sections subject with showed truncated primarily nuclei vascular cells. This finding suggests accumulation directly involved disease progeria.