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MattJ
15th November 2011, 09:44
Morning all,

Another fault in the protein recycling system has been found in people with MND:


In the short space of three months, details of a second gene have been published linking MND to the protein recycling system in our cells.

Leading this research was Prof Teepu Siddique, eminent MND researcher from North Western University in Chicago USA. Not only was he the founder of the first MND causing gene SOD1, but he also led the group that identified faults in the UBQLN2 gene in MND in August 2011. This research was published in the November edition of the Archives of Neurology journal.

Instead of searching for common genetic mistakes in families with the inherited form of MND, this research group focused on a candidate gene called SQSTM1. They chose SQSTM1 as a candidate due to the prior knowledge that its protein product is associated with MND.

They then unravelled the code for this particular gene in 340 people with the rare, inherited form of the disease and 206 sporadic cases of MND. They also compared these with 738 healthy controls.

They identified 10 different mistakes in the SQSTM1 gene in 15 people and did not find any of these mistakes in the healthy controls. The research group therefore estimate that genetic mistakes in the SQSTM1 gene could account for approximately 2-3% of cases of MND.

However, it is not yet conclusively known whether these mistakes cause MND, or increase the risk of somebody developing the disease. Further studies are therefore needed to confirm this.

http://mndresearch.wordpress.com/2011/11/03/sqstm1/

http://www.mndassociation.org/news_and_events/our_news/sqstm1_gene.html

Keep it coming MNDA!!!!!

MattJ
21st November 2011, 21:04
Some additional comments from the research team:

http://mndresearch.wordpress.com/2011/11/03/sqstm1/#comment-320

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