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Interferon-beta aids balance and movement in mice with spinocerebellar ataxia 7
Date:6/9/2013

Paris, France: The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found a new way of controlling the symptoms and significantly improving the physical condition of animal models of the disease, the annual conference of the European Society of Human Genetics will hear today (Monday June 10).

Dr. Annie Sittler, from the Centre National de la Recherche Scientifique (CNRS), working in the team of Professor Alexis Brice at the research centre Brain and Spinal Cord Institute (CR-ICM), Paris, France described the team's work in the field of polyglutamine disease, a group of neurodegenerative conditions involving abnormal protein conformation. "Accumulation of a polyglutamine-containing protein known as mutant ataxin -7 is responsible for neurotoxicity, neuronal dysfunction, and eventually neuronal death", she explains. "We had previously shown in cells that mutant ataxin-7 was degraded in nuclear bodies, structures found in the nucleus of cells, by a protein known as promyeloctyic leukaemia protein or PML, and that interferon-beta could help with this process and protect against disease."

The researchers used a mouse model of a particular form of spinocerebellar ataxia known as SCA7. The genetically-modified 'knock-in' mice develop the severe type of the disease, similar to the infantile human version, and have a very short lifespan of around 14 weeks. They were injected with mouse interferon-beta three times a week, starting at five weeks of age, just before their first symptoms of disease were due to appear. Investigation of their brains post-mortem showed that the mice who had received the interferon-beta,
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Contact: Mary Rice
mary.rice@riceconseil.eu
European Society of Human Genetics
Source:Eurekalert

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