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A gene has been identified that causes mobility problems in mice

Researchers at the Institute of Biomedical Research of Bellvitge (IDIBELL) and the University of Barcelona have identified a gene that causes, in mice, the progressive degeneration of neurons in the cerebellum. The finding could open new avenues for developing therapies to treat neurodegenerative diseases, has been published in the journal 'PLoS Genetics’.

Staff | 13 January 2009

In particular, the finding is a mutation of the gene that encodes a giant protein called HERC1. In the study, coordinated by José Luis Ros, researcher from IDIBELL and of the University of Barcelona, other research groups from the Pasteur Institute in Paris (France), Kyoto University (Japan) and the CSIC-Universidad Miguel Hernández de Alicante (Spain) have also participated. The fact that this mutation affects the cerebellum area is especially important because it is the centre responsible for motor coordination in vertebrates, alterations to it causes ataxia, characterized by lack of coordination of body movements.

The study has identified the gene in mice called by the authors, in Spanish, 'tambaleantes' (shaky), who have problems moving. Besides suffering ataxia, these animals are smaller, have fertility problems and live shorter. All these effects could be reversed by introducing a copy of a normal gene.
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