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New approach which can help to predict neurodegenerative diseases
Date:7/26/2010

New investigations, initiated by research workers at CIC bioGUNE and led by Dr. Aitor Hierro, have opened possibilities for making progress in the knowledge and prediction of neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS), according to the prestigious journal of The Proceedings of the National Academy of Sciences of the United States of America.

This study opens the possibility of research in humans to detect this pathology before the symptoms arise.

The research was undertaken in collaboration with groups from the National Institute of Health (NIH) and the Neuromuscular Center at the Cleveland Clinic, both in the USA, as well as from the National Centre for Scientific Research (CNRS) in France. They have described, for the first time ever, the structure of a protein known as Vps54, one of the four making up the GARP complex of proteins.

Using the wobbler mouse as a model, the protein Vps54 has a mutation which gives rise to a progressive degeneration of the motor neurones and to infertility. Given this characteristic phenotype, the wobbler mouse has been used since its discovery in 1956 by Dr. Falconer as a model for the study of the spontaneous degeneration of motor neurones, including Amyotrophic Lateral Sclerosis.

In 2005 Dr. Jockusch's team managed to identify the mutation responsible for the wobbler phenotype. From this moment the team led by Dr. Hierro focused on understanding how this mutation affected the protein and its own activity.

In this way it was discovered that the disease is not only the consequence of a mutation of a concrete protein a thesis held to date on the basis of previous studies , but that there exists a domino effect in which reduced levels of the mutated protein have a destabilising effect on the rest of the components of the GARP complex of which they form part. "The illness develops not only because of the mutation but it may also be due to other mutatio
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Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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