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

ns or defects that generate reduced levels of the GARP complex or instability therein", explained Dr Hierro.

There exists a study undertaken at the University of Michigan by Dr. Brown with 96 patients suffering from sporadic ALS and in which this mutation present in the wobbler mouse was not found and so it can be concluded that this mutation has no great presence amongst humans. "Nevertheless, the great similarity between the GARP complex proteins of the mouse and amongst humans means that such that a motorneurodegenerative effect in humans due to reduced levels of the GARP mooring complex cannot be discarded This opens the possibility for studying these levels in humans where, moreover, it will be possible to predict the illness well before the appearance of symptoms", explained Dr Hierro. "It is highly likely that many patients with some motorneurodegenerative disease do not have the same mutation as the wobbler mouse but there does exist the possibility that, due to some other reason, some patients may have reduced levels of the GARP complex, a situation which gives rise to the illness", stated Dr Hierro.

To carry out this research, various techniques such as x-ray crystallography, together with bioinformatic analysis, have been used, enabling resolving for the first time the structure of the mentioned protein in the region where the mutation is produced. Subsequently a combination of in vitro experiments were undertaken using biophysical techniques, as well as in vivo ones using various mouse cell lines and tissues with the wobbler phenotype, and it was confirmed that the mutation produces a destabilising effect on the Vps54 protein, an effect that is subsequently transmitted to the rest of the components of the GARP protein complex.

Regulation of cell 'traffic'

The metabolic balance of the cell largely depends on the correct transport of components amongst the various cell organelles, something similar t
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Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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