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Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : José Javier Lucas Lozano

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Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid


Huntington's disease (HD) is caused by polyglutamine expansion in the huntingtin protein that leads it to aggregate and form inclusion bodies (IBs). IBs are a common feature of neurodegenerative diseases. In the case of Parkinson's disease, they are formed by the alpha-synuclein (a syn) protein. Because there are hereditary forms of Parkinson's disease due to mutations (point or duplication mutations) of a syn in the gene, it is known that alterations in the aggregation or levels of a syn are sufficient to cause neurodegeneration. Based on the preliminary results of co location of a syn in the IBs of patients and animal models for HD, it was hypothesised that a syn is a key mediator in the pathogenesis of HD. The main objective of the proposal is, therefore, to generate and analyse transgenic mice with HD with different gene doses of a syn.

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