Monday, 10 February 2014

New large HSP research study reported

A new study about HSP has just been reported. The study took about 10 years to complete, and has examined the genes of about 100 HSP patients, focussing on countries where HSP is found but genetic studies are rare. This includes Egypt, Pakistan and Iran. Part of the study identified 18 new genes for HSP.

But, with all this data they were able to look at the wider picture, and made links between HSP and other more common neurodegenerative disorders, such as Alzheimer’s disease, Parkinson's and amyotrophic lateral sclerosis (ALS).This suggests that these conditions may have some common ground, and that drugs which target these overlapping genes could help to treat more than one disease. 

They were able to create a plausible network of proteins involved in this disease. Of the 18 new genes, 15 were identified from the genetic tests but 3 were from looking at this network. They call the network the "HSPome". Here's an extract;



This work has identified several promising targets for development of new treatments.

Readers should note that I have not seen the article, and my notes are based on what others have said about it.

Links to various reports on the study;
http://phenomena.nationalgeographic.com/2014/01/30/now-this-is-how-you-find-disease-genes/
http://sciencedigg.blogspot.co.uk/2014/02/a-unified-process-for-neurological.html
http://www.newswise.com/articles/scientists-discover-new-genetic-forms-of-neurodegeneration
http://spatax.wordpress.com/2disease, P09/contribution-of-the-spatax-network-to-the-identification-of-18-new-causative-genes/

And, a link to the article itself;
http://m.sciencemag.org/content/343/6170/506
http://dx.doi.org/10.1126/science.1247363

Reference: Novarino, Fenstermaker, Zaki  Hofree, Silhavy, Heiberg, Abdellateef, Rosti, Scott, Mansour, Masri, Kayserili, Al-Aama, Abdel-Salam, Karminejad, Kara, Kara, Bozorgmehri, Ben-Omran, Mojahedi, Gamal El Din Mahmoud, Bouslam, Bouhouche, Benomar, Hanein, Raymond, Forlani, Mascaro, Selim, Shehata, Al-Allawi, Bindu, Azam, Gunel, Caglayan, Bilguvar, Tolun, Issa, Schroth, Spencer, Rosti, Akizu, Vaux, Johansen, Koh, Megahed, Durr, Brice, Stevanin, Gabriel, Ideker, and Gleeson. 2013. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science. 

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