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Thursday, August 11, 2011 11:18 PM | Ken Torbert Volg link

New research showing genetic links to the immune system in MS is being presented by the EAE/pharma MS researchers in an attempt to stop vascular research in MS.   But really, all it does is bring up more questions.  And it does not, in any way,  preclude the vascular connection to MS.   We are not hysterical, we are interested in research.  Here's why.



---from an incredibly biased article in the Globe today:


http://www.theglobeandmail.com/life/health/new-health/health-news/massive-study-disputes-zamboni-theory-of-multiple-sclerosis/article2125784/



The discovery strongly suggests MS originates as an inflammatory immune response and casts aside “eccentric and maverick ideas” that it is caused by venous abnormalities, said Alastair Compston, neurology professor at the University of Cambridge and a joint lead author of the study.


“One can say that this provides absolutely no support whatsoever for that [blocked veins] idea,” Prof. Compston said.



(Note:  Professor Compston is the inventor of Campath, and one of the most out-spoken proponents of the autoimmune theory.  He immediatly came out against any CCSVI research in the UK in 2009. And he sounds a bit hysterical.)  http://www.neuroscience.cam.ac.uk/directory/profile.php?AlastairCompston



What is this new research, exactly?


Nearly 250 researchers working as part of a major international consortium found 29 new genetic variants common to MS and confirmed that 23 previously identified genetic associations are linked to the disease.


In addition to playing a role in the immune system, one-third of the genes involved in the research are also linked to other autoimmune conditions, including Type 1 diabetes, rheumatoid arthritis and Crohn’s disease. The findings are published Thursday in the journal Nature.



While the discovery is important, the large number of genes implicated in MS also indicates how complex it is and how much more work remains to be done, said Amit Bar-Or, associate professor of neuroimmunology and director of the experimental therapeutics program at the Montreal Neurological Institute and Hospital.


“It hasn’t made things any simpler. It’s made them more complicated,” he said. “We are several steps away from translating this to effective therapy but it’s an important step.”


__________________________________________________________________________________________



Identifying genes involved in a disease is an important and complex step.  That is why a geneticist in Italy is looking at the connection between the genes found in MS and vascular disease.  And she found many correlations.  Dr. Ferlini found that that MS and venous malformations share MANY COPY NUMBER VARIATIONS (CNVS)  The genes for venous malformation and the immune system ARE RELATED.



Results: In total, 322 CNVs, of which 225 were extragenic and 97 intragenic, were identified in 15 patients. 234 known polymorphic CNVs were detected, the majority of these being situated in non-coding or extragenic regions. The overall number of CNVs (both extra- and intragenic) showed a robust and significant correlation with the number of stenosing VMs (Spearman: r = 0.6590, p = 0.0104; linear regression analysis r = 0.6577, p = 0.0106).


The region we analysed contains 211 known genes. By using pathway analysis focused on angiogenesis and venous development, MS, and immunity, we tentatively highlight several genes as possible susceptibility factor candidates involved in this peculiar phenotype.


Conclusions: The CNVs contained in the HLA locus region in patients with the novel phenotype of CCSVI/VM and MS were mapped in detail, demonstrating a significant correlation between the number of known CNVs found in the HLA region and the number of CCSVI-VMs identified in patients. Pathway analysis revealed common routes of interaction of several of the genes involved in angiogenesis and immunity contained within this region. Despite the small sample size in this pilot study, it does suggest that the number of multiple polymorphic CNVs in the HLA locus deserves further study, owing to their possible involvement in susceptibility to this novel MS/VM plus phenotype, and perhaps even other types of the disease.


http://www.fondazionehilarescere.org/pdf/ferlini-etal-2010-final.pdf 



______________________________________________________________________________


Trying to take the vascular system out of the discussion of MS will NO LONGER BE ACCEPTABLE.   The body is one.  The connection to the vascular system in MS is being newly illucidated every day.  These studies will not quell the vascular research, because we are finding venous malformations in people with MS around the world.  And the truth will not be manipulated by industry biased researchers.



So, thank you, Dr. Compston, for your attempt to "quell this hysteria".   But we are not hysterical.  We are focused and we know how to read.   We'll just keep researching.  Best to you and Campath.


Joan


http://www.facebook.com/notes/ccsvi-in-multiple-sclerosis/new-autoimmune-research-will-quell-hysteria-on-blocked-veins-in-ms/10150274067977211