selkie wrote:I'm sorry this is way over my head - (thanks CeCe for putting it in plain English).
Is this discovery the beginning of proof that MS & CCSVI are genetically inherited disorders? Or am I completely misunderstanding the significance?
I'd wondered if CCSVI birth defects were the cause of something that happens to the fetus in the womb, like say having a mother that smokes or has a nutritional deficiency or whatever else causes birth defects. But does this mean it's actually inherited thru ancestry?
And what does this imply for gene therapy (another topic I know zero about but am wondering).
Sorry for being thick & asking stupid questions - MS brain here.
Selkie--it's WAY over my head, too....but I wanted to post it here, so that the folks that do understand this, have it.
Basically, Dr. Ferlini and her team found a very strong association between MS and venous malformations. Dr. Zamboni and vascular specialists from 47 nations, headed up by Dr. B.B. Lee of Georgetown University, have written a consensus document, stating that the venous malformations found in pw CCSVI look to be truncular venous malformations. These are congenital, meaning you are born this way.
Dr. Ferlini's research adds to this. It shows that MS and venous malformations are related, in fact, the mutation in genes associated with both happens on the same locus (place) in the same gene....one that is already associated with MS --chromosome 6p21.32 (HLA locus)
So....what this genetic research is doing is confirming the link between people who develop MS, and people who are born with venous malformations. This may be a coincidence, or it may be much more. We currently do not have any procedures that can address venous malformations in utero, or any genetic treatments. BUT we know how to take care of truncular venous malformations in other parts of the body (like those found in Budd Chiari), with angioplasty and venous surgery.
L---it's been surreal seeing my writing show up on random blogs and websites, always uncredited, and in some cases other people putting their names on it. Whatever. As long as the info gets out there, I guess. I ain't getting paid anyway