New breakthrough to better understand the rare disease Friedreich's Ataxia
Research carried out in Lleida by researchers from the Department of Basic Medical Sciences at the University of Lleida and the Biochemistry of Oxidative Stress research group at IRBLleida
Research carried out in Lleida has led to the development of a mouse model that mimics Friedreich's Ataxia, a rare neurodegenerative disease caused by a deficiency of a protein called frataxin. Patients suffering from this disease show degeneration and cell death in the nervous system, which causes incoordination and mobility problems. It usually appears between the ages of five and 15, and is often accompanied by heart disease and diabetes.
The mouse developed is based on the human I154F mutation, which is a mutation present in some Friedreich's Ataxia patients. Researchers from the Department of Basic Medical Sciences at the University of Lleida (UdL) and the Biochemistry of Oxidative Stress research group at the Biomedical Research Institute of Lleida (IRBLleida) have analysed the consequences of this mutation to advance the study and understanding of this disease. The research has been published in the journal Cellular and Molecular Life Sciences.
The first author of the article, Marta Medina Carbonero, says that this research represents an important advance because in order to find a treatment or cure for this disease, it is first necessary to understand what happens and to be able to test possible drugs in a good animal model, which until now did not exist. With this mouse, which has a similar behaviour to patients, it will be possible to carry out these two tasks.
This research has been possible thanks to the support of the "BeHeard" grants from the Rare Genomics Institute (California, USA), the French Association of Ataxias and the Ministry of Economy and Business (MINECO, Spain, SAF2017-83883-R).
Medina-Carbonero, M., Sanz-Alcázar, A., Britti, E. Delaspre F, Cabiscol E, Ros J, Tamarit J.. Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations. Cell. Mol. Life Sci. 79, 74 (2022). https://doi.org/10.1007/s00018-021-04100-5
The Biochemistry of Oxidative Stress research group at the Institute for Research in Biomedicine of Lleida (IRBLleida)