TY - JOUR T1 - Reversible phenotype in a mouse model of Hutchinson–Gilford progeria syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 794 LP - 801 DO - 10.1136/jmg.2008.060772 VL - 45 IS - 12 AU - H Sagelius AU - Y Rosengardten AU - E Schmidt AU - C Sonnabend AU - B Rozell AU - M Eriksson Y1 - 2008/12/01 UR - http://jmg.bmj.com/content/45/12/794.abstract N2 - Hutchinson–Gilford progeria syndrome (HGPS) is a rare progeroid syndrome caused by mutations in the LMNA gene. Currently there is no treatment available for HGPS, but promising results from several studies using farnesyl transferase inhibitors (FTIs) on cells and animal models of HGPS have been published and a clinical trial using FTIs has been started in patients with HGPS. However, the published data from animal models treated with FTIs come from studies where the treatment was started before pronounced disease development. This study used an inducible transgenic animal model of HGPS with abnormalities of the skin and teeth. After phenotype development, the transgenic expression was turned off and a rapid improvement of the phenotype was noted, within 4 weeks of transgenic suppression. After 13 weeks, the skin was almost indistinguishable from wild-type skin. This study shows that in these tissues, expression of the progeria mutation does not cause irreversible damage and that reversal of disease phenotype is possible, which gives promise for a treatment for this disease. ER -