Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disease in which children develop pathologies associated with old age. HGPS is caused by a mutation in the LMNA gene, resulting in the formation of a dominant negative form of the intermediate filament, nuclear structural protein lamin A, termed progerin. Expression of progerin alters the nuclear architecture and heterochromatin, affecting cell cycle progression and genomic stability. Two groups recently reported the successful generation and characterization of induced pluripotent stem cells (iPSCs) from HGPS fibroblasts. Remarkably, progerin expression and senescence phenotypes are lost in iPSCs but not in differentiated progeny. These new HGPS iPSCs are valuable for characterizing the role of progerin in driving HGPS and aging and for screening therapeutic strategies to prevent or delay cell senescence.
Bibliographical noteFunding Information:
LJN is supported by National Institutes of Health (NIH) grants ES016114 and -03S1 and the University of Pittsburgh Claude D. Pepper Center (P30AG024827). PDR is supported by NIH grants NS058451, AG024827, AG033907, and AR051456. JCG is supported by NIH grants DK04493 and CA119298.