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Progeria: Promising results from new gene therapy on animals
Date:10/27/2011

Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. For several years, research has been conducted in close collaboration from teams led by Nicolas Lvy and Annachiara De Sandre-Giovannoli at Inserm/Universit de la Mditerrane and from a team led by Carlos Lpez-Otn (University of Oviedo) and has succeeded in making such a model possible. The lifespan of mice treated through gene therapy is significantly extended and several other parameters related to them are improved.

The research, published on 26 October 2011 in Science Translational Medicine, received backing from the AFM thanks to donations from a Telethon.

Progeria is a rare genetic disease. Children suffering from it seem to experience accelerated aging (chronic hair loss, joint pains, thin and hairless skin, cardiovascular problems). In 2003, Nicolas Lvy and his team identified the cause of the disease when they discovered the involvement of the LMNA (nuclear protein-coding) gene, lamin A/C. The mutation causes the production of a truncated protein, progerin, which accumulates in the nuclei of cells and its toxic effects cause their deformation and various other malfunctions. It has since been proven that progerin progressively accumulates in normal cells, thus establishing a link between the disease and physiological aging.

In 2008, European clinical trials began on twelve children suffering from Progeria. The treatment is based on a combination of two existing molecules: statins (prescribed in the treatment and prevention of atherosclerosis and cardiovascular risks) and aminobisphosphonates (prescribed in to treat osteoporosis and to prevent complications in some forms of cancer). The use of both these molecules aims to chemically alter progerin to reduce its toxicity. However, although this treatmen
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Contact: Priscille Rivire
presse@inserm.fr
INSERM (Institut national de la sant et de la recherche mdicale)
Source:Eurekalert

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