Hope for Progeria - Successfully Validated on Mice, a Treatment Could Soon be Tested on Children

Monday, June 30, 2008 General News
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PARIS, June 30 Five years after the identification of thegene responsible for progeria, a rare disease causing accelerated andpremature ageing, a team of Spanish and French researchers (Carlos Lopez-Otinand coll. - University of Oviedo - and Nicolas Levy and coll. - Inserm/AP-HM,Marseille, France) have successfully demonstrated a treatment for thedisease, using mice. This treatment, combining two existing pharmacologicalmolecules, should slow down the progression of this disease which hashitherto remained untreatable.

Subject to the authorisation of health agencies, this treatment couldvery soon be tested on 15 children in Europe. This represents a major advancefor the families affected by this disease and - more generally - for theunderstanding of the normal ageing process.

From identification of the gene to the development of treatment and theprojected clinical protocol, this work - published in the review NatureMedicine - has received the financial backing of the Association Francaisecontre les Myopathies (Muscular Dystrophy Association) thanks to FrenchTelethon donations.

The treatment recently validated in mice is based on a combination of twoexisting pharmacological molecules: statins (indicated for the treatment andprevention of atherosclerosis and cardiovascular risks) andaminobisphosphonates (indicated for the treatment of osteoporosis). TheFranco-Spanish researchers have demonstrated that this treatment attenuatedthe effects of the disease and significantly raised life expectancy.

As previously demonstrated by Nicolas Levy's team - which originallyidentified the gene in 2003 - progeria is due to the accumulation in thecells of a truncated protein, progerin, whose toxicity is linked to thepresence of a fatty acid which remains fixed to the protein (whilst it iseliminated in normal cells). In order to inhibit or block the toxicity ofprogerin, the researchers explored the path of synthesis of this fatty acid.In fact, pharmacological molecules are known to block certain stages in thispath of synthesis.

After several attempts they noted that a combination of a statin and anaminobisphosphonate could prevent the fixation of the fatty acid to theprogerin, and thus reduce its toxicity. The progerin being less toxic, thedisease develops more slowly.

Following these encouraging results, a clinical protocol based on thistreatment piloted by Nicolas Levy in Marseille (France) is about to start up.It should last 3 years and will concern 15 of the 25 children affected byprogeria in Europe. The aim of this protocol is to slow down the progressionof the disease and, if possible, prolong the life expectancy - at presentvery limited - of the children affected.

Article published in Nature Medicine : http://dx.doi.org/10.1038/nm.1786

SOURCE AFM-Association Francaise contre les Myopathies

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