Instituto Universitario de Biología Molecular

Neuronal repair and molecular therapy in neurodegeneration: spinocerebellar ataxias

Physiological and pathological processes

Prof. Javier Díaz Nido. Catedrático.  Departamento de Biología Molecular. UAM.

Our research group is interested in the study of neurodegenerative diseases. Among them are ataxias, which are characterized by the loss of neurons in the cerebellum and spinal cord. In particular, we have focused on Friedreich’s ataxia, which is one of the most common hereditary ataxias. We try to clarify the molecular bases of this pathology and develop therapies (pharmacological, gene and cellular) that may be effective for its treatment. Friedreich’s ataxia is an autosomal recessive neurogenetic disease caused by a deficiency of frataxin, a protein located mainly in mitochondria. In addition to the neurodegenerative component, many patients also suffer from musculoskeletal disorders, hypertrophic cardiomyopathy, and diabetes. Friedreich’s ataxia is a degenerative disease with a very early onset, and it can serve as a very useful model for other degenerative diseases in which mitochondrial dysfunction also plays a very important role. More generally, we are also interested in the crucial role of mitochondrial metabolism in neuronal homeostasis and its alterations in pathological situations.