The French Association of Ataxia of Friedreich has renewed the aid of 25,000 euros to the Oxidative stress biochemistry Research Group of the Biomedical Research Institute of Lleida (IRBLleida) and the University of Lleida (UdL) to validate the therapeutic potential of calcitriol, the active form of vitamin D, to treat this disease. "The entity has decided to continue collaborating due to the advances in research carried out in Lleida, despite the difficulties of working in the laboratory during the confinement and the new normality" explained the principal investigator of this project, Fabien Delaspre.

Friedreich's ataxia is a rare neurodegenerative disease, caused by low but not zero levels of frataxin, a mitochondrial protein. The disease is characterised by a destruction of certain nerve cells in the spinal cord, the cerebellum and the nerves that control muscle movements in the arms and legs.

The Oxidative stress biochemistry Research Group at IRBLleida, led by professors Joaquim Ros and Jordi Tamarit from the University of Lleida, is conducting this research entitled Effect of Calcitriol in a new mouse model for FA with point mutation I151F'. The research studies the effects on a mouse model of a new treatment - consisting of the administration of calcitriol, since it has previously been observed that this compound has positive effects on frataxin-deficient neurons and cardiomyocytes.

Friedreich's ataxia usually appears between the ages of five and fifteen, and is often accompanied by heart disease and diabetes. "These symptoms are very difficult to reproduce in mice, since none of the models in mice developed so far have been able to reproduce satisfactorily the main characteristics of the disease. This represents an additional difficulty for the development of medicines, since they have to be tested on animals before they can be used on humans," explained the group's researcher, Fabien Delaspre. For this reason, this project includes the use of a mouse model adapted to preclinical trials.

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