Huntington’s disease is caused by a mutation in the Huntingtin gen. Patients show involuntary movements, cognitive deficits and specific psychiatric disorders resulting from the degeneration and death of medium spiny striatal neurons. A study led by researchers of the Institute of Neurosciences of the UB (UBNeuro) describes the toxic role of the protein RTP801 in this pathology, and specifically, how it affects motor deficits.

“This protein was identified in Parkinson’s disease, and we have described it in Huntington’s, another movement disorder. When the expression of this protein is regulated downward, we prevent motor deficits from appearing,” says Cristina Malagelada, researcher at UBNeuro and one of the authors of the study, published in the journal Cell Death and Disease.

Using mice models, cultured primary neurons and postmortem brain samples of patients with Huntington’s, the team studied whether the protein RTP801 is involved in the deficits in motor learning. The results of the study provide high levels of this protein in the synapsis of the striatum, both in mice models and human samples.

“The main result of the study is that the protein RTP801 contributes to the damaging effect of the mutated huntingtin in mice striatal synaptic spines that model Huntington’s disease,” says Esther Pérez Navarro, researcher at UBNeuro and author of the study.

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