Hutchinson-Gilford syndrome, known as progeria, is a very rare genetic disease (about 100 cases in the world) which induces premature and accelerated aging in patients. The mutation which causes this syndrome affects the LMNA gene, which codes for proteins called “lamins” A and C. The evolution of the disease is very rapid—it has been estimated that affected children age by ten years every year, leading to premature death between 13 and 16 years of age. This accelerated aging affects the majority of tissues: skin, blood vessels, the heart, bones and muscles.
Modeling and screening of molecules
- Reference laboratory: I-Stem
In collaboration with Dr. Nocolas Levy’s group (INSERM unit/UMR910, Faculty of Medicine La Timone-University of the Mediterranean, Marseille), Dr. Xavier Nissan’s team has succeeded in identifying a molecular mechanism which, in progeria, protects neural cells from accelerated aging thanks to the iPS stem cells. This neuro-protection is due to a microRNA, miR-9, which can explain why the cognitive functions of the patients affected with this disease are preserved. The objective of Dr. Xavier Nissan and his team now is to find a way to utilize or imitate this microRNA-9 for therapeutic use.