Dopamine Dysfunction in DYT1 Dystonia
Technical Report,01 Aug 2013,30 Apr 2015
Massachusetts General Hospital Boston United States
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TorsinA is a protein that may affect dopamine neuron development, specifically the production and survival of dopamine neurons. The protein torsinA was first identified because the deletion of an amino acid residue in this protein, termed the DYT1 mutation, results in early-onset, primary generalized dystonia in 30 to 40 per cent of those who carry this gene mutation. TorsinA may promote the survival of dopamine neurons. By increasing our understanding of how the protein, torsinA, promotes neuron survival, we may be able to use this information to help guide new therapies to prevent the loss of neurons in a variety of diseases.