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A coming CCSVI blockbuster?
Posted: Wed May 05, 2010 9:30 am
by trapatron
Read about Denise´s liberation:
http://www.msrc.co.uk/index.cfm/fuseact ... ageid/2993
In the end off text stand this:
Just a note: Genetic research proved in Aug. 2009 that people with MS have a defective chromosome 6p21.32 venous disease. It was only released to the public on April 28, 2010, after the Annual Neurologic meeting in Toronto Canada.
If this is what i seems to be it will be super important.
How to find out more about that research?
Posted: Wed May 05, 2010 10:04 am
by cheerleader
REPOST from another thread-
http://www.thisisms.com/ftopicp-108659.html
NEW PUBLICATION: Strong correlation between venous malformation, CCSVI and MS-
http://www.biomedcentral.com/content/pd ... -11-64.pdf
I heard Dr. Ferlini speak in Bologna, and to be honest...nothing confuses me more than genetics medicalese. It's unbelievably difficult to follow---but here's new research showing how stenosing vascular malformations and multiple sclerosis are STRONGLY related, as shown by shared "copy number variations" in DNA samples. This is more proof that the genetic connection of venous malformations is connected to MS.
Here's the research...good luck!!
Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet been characterised, although it is known to be associated with the HLA region on 6p21.32. Recently, a picture of chronic cerebrospinal venous insufficiency (CCSVI), consequent to stenosing venous malformation of the main extra-cranial outflow routes (VM), has been described in patients affected with MS, introducing an additional phenotype with possible pathogenic significance.
Methods: In order to explore the presence of copy number variations (CNVs) within the HLA locus, a custom CGH array was designed to cover 7 Mb of the HLA locus region (6,899,999bp; chr6:29,900,001-36,800,000).
Genomic DNA of the 15 patients with CCSVI/VM and MS was hybridised in duplicate.
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.
Author: Alessandra FerliniMatteo BovolentaMarcella NeriFrancesca GualandiAlessandra BalboniAnton YuryevFabrizio SalviDonato GemmatiAlberto LiboniPaolo Zamboni
Credits/Source: BMC Medical Genetics 2010, 11:64
cheer
Posted: Wed May 05, 2010 10:04 am
by ikulo
thanks for spotting that, I hadn't noticed it. After a google search, apparently it's here:
http://www.ncbi.nlm.nih.gov/pubmed/20426824
Posted: Wed May 05, 2010 10:15 am
by cheerleader
Yeah--the abstract is on pub med-- but I posted the full paper link above. Dr. Ferlini is a brilliant researcher. She was quite intrigued to find the correlation of venous malformations and MS in that many CNVs.
more evidence every day--
cheer
Engineering analogy
Posted: Wed May 05, 2010 10:43 am
by BELOU
CCSVI is a mass and its inertia is getting larger and larger... Eventually, it won't be possible to stop it.... Great!
Interesting Early Research
Posted: Thu May 06, 2010 6:06 am
by MarkW
This is interesting early research which is highly complex and beat me on many points (figure 4 is mind blowing). It must not be regarded as conclusive research but is a great starting point.
MarkW