Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome

Journal of Medical Genetics
Hanna SageliusMaria Eriksson

Abstract

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.

Citations

Dec 31, 2008·Biogerontology·Lynne S Cox
Nov 19, 2008·Transgenic Research·Fernando G OsorioJosé M P Freije
May 21, 2009·Annual Review of Genomics and Human Genetics·Brandon S J DaviesStephen G Young
Aug 4, 2011·European Heart Journal·Daniel Jacoby, William J McKenna
Apr 24, 2014·Journal of Clinical Medicine·Lisa B Boyette, Rocky S Tuan
Apr 24, 2009·The Journal of Investigative Dermatology·Brian C CapellSeth J Orlow
Feb 18, 2015·Annual Review of Animal Biosciences·Sarah J MitchellRafael de Cabo
Jul 28, 2016·Cellular and Molecular Life Sciences : CMLS·Carmen Ehrmann, Marlon R Schneider
Nov 12, 2017·Biochemical Society Transactions·Charlotte StrandgrenMaria Eriksson
Apr 24, 2010·Journal of Applied Physiology·Matthew Shu-Ching YanPhilip A Marsden
Sep 10, 2011·Aging Cell·Ylva RosengardtenMaria Eriksson
Oct 26, 2012·Aging Cell·Haoyue ZhangKan Cao
Jan 16, 2010·Biochemical Society Transactions·Dawn T Smallwood, Sue Shackleton
Apr 17, 2015·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Charlotte StrandgrenMaria Eriksson

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