Dear Editor,Hutchinson-Gilford Progeria Syndrome(HGPS)is caused by a mutation in the Lamin A/C gene(LMNA),resulting in the synthesis and accumulation of an abnormal protein,progerin,which disrupts the structural integ...Dear Editor,Hutchinson-Gilford Progeria Syndrome(HGPS)is caused by a mutation in the Lamin A/C gene(LMNA),resulting in the synthesis and accumulation of an abnormal protein,progerin,which disrupts the structural integrity and function of the nucleus and nucleolus.Affected individuals exhibit a senescent phenotype and die prematurely due to cardiovascular complications.The exceptional case of Sammy Basso,who lived until the age of 28,has brought renewed public attention to this rare disease.展开更多
基金funded by the Medical Research Council(MRC)the Italian Ministry of Health,Ricerca Corrente,through IRCCS MultiMedica.
文摘Dear Editor,Hutchinson-Gilford Progeria Syndrome(HGPS)is caused by a mutation in the Lamin A/C gene(LMNA),resulting in the synthesis and accumulation of an abnormal protein,progerin,which disrupts the structural integrity and function of the nucleus and nucleolus.Affected individuals exhibit a senescent phenotype and die prematurely due to cardiovascular complications.The exceptional case of Sammy Basso,who lived until the age of 28,has brought renewed public attention to this rare disease.
