Molecular Neurobiology - Universidad Autónoma de Madrid

Molecular Neurobiology
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D3
Neuronal repair and molecular therapy in neurodegeneration. Spinocerebellar ataxias
Research summary
Many neurogenetic diseases are characterized by a progressive neurodegenerative process in which selective
populations of neurons become dysfunctional and eventually die. Model diseases in this respect are the
spinocerebellar ataxias, which are characterized by neurodegeneration affecting the cerebellum, brainstem
and spinal cord. Our group studies neuronal dysfunction and death processes to find pathways to promote
neuronal survival and repair with the prospects of developing new therapeutic tools.
Research summary
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We have focused our attention on Friedreich´s ataxia, a hereditary neurological disorder resulting from a
deficiency of frataxin, which is a mitochondrial protein encoded for by the nuclear genome. Our aims are
directed to a deeper understanding of neurodegeneration and the development of experimental molecular
therapy approaches. Thus we are also very interested in the optimization of the technologies for gene transfer
to cells of the central nervous system. In this context, we use lentiviral and herpesviral vectors for neuronal
gene transfer in order to validate possible therapeutic targets, perform functional genomic analyses and design
novel gene therapy approaches.
Thus, we use cell models to study the molecular changes triggered by frataxin gene deficiency within mammalian
neurons. These studies may facilitate the identification of novel therapeutic targets not only for Friedreich´s
ataxia but also for other neurological diseases characterized by a prominent mitochondrial dysfunction.
Likewise, we also explore therapeutic approaches based on possible drugs (or biomolecules) able to either
increase frataxin expression or compensate for frataxin deficiency in mature mammalian neurons
We have also used a Friedreich´s ataxia animal model to assay a gene therapy strategy based on frataxin
gene transfer using herpesviral vectors. This project aims to establish a proof-of-principle about the suitability
of gene therapy for recessive spinocerebellar ataxias.
CBM 2007-2008