A new study ( http://www.bbc.co.uk/news/health-16086004 )discovered an altered gene in people with MS.
They discovered this by looking at parents of people with MS and evaluating their genes in the area thought to have to do with vitamin D then comparing this to the MS patient's genes.
EDIT--They looked at 3,000 families, and found 35 with this mutation. So, 1% of the pwMS had this gene.
Researchers, lead by a team from Oxford, have been looking for genetic clues to explain the potential cause of MS. Their investigations identified a mutation of a gene, CYP27B1. They then looked at 3,000 families of unaffected parents with a child with MS and found that 35 parents carried this variant gene and had passed it on to their child.
This gene variant is rare and does not account for all cases of MS. But what is interesting is that this gene variant can cause vitamin D deficiency. The results of this study strengthen the case for vitamin D deficiency as one of the potential causes of MS.
http://www.mstrust.org.uk/news/article.jsp?id=5130
The article points out that if a person has two copies of this gene they develop a genetic form of rickets (soft bones that don't harden up with calcium as they should) because they have chronically low vitamin D which is necessary for the bone to deposit calcium properly.
Naturally, we'll be hearing about how this supports the autoimmune theory of MS because vitamin D modulates immune system function. But of course that starts from a biased belief that it is the immune system/vitamin D interaction which is the thing of interest. As opposed to, oh, I don't know--maybe a low vitamin D and CCSVI interaction?
Here's a thing that WASN'T mentioned in the article--the MS patient's parents had the mutated gene too. That's how they knew it was inherited. Why don't the parents have MS? Could it be that the parents don't also have CCSVI?
Could it be that this mutated vitamin d gene and the low d level is tolerable if the blood flow is perfect and laminar as it should be but when the blood flow goes wrong these factors are a sinister combination that results in MS? Venous ulcers cause immune system activation naturally, might the "low vitamin d immune system" be worse/more aggressive than a regular one?
In my book I offer that we don't know how much of MS is immune related and how much venous. this is another interesting MS clue that keeping an open mind about how much CCSVI contributes to MS is the right thing to do; science can be surprising.
Maybe what science could possibly do is get rats and alter their genes so they have the CYP mutation then give them CCSVI...do those rats develop MS like lesions? what about rats without the gene mutation? Remember that people with the hemachromatosis gene do worse with venous ulcers because they have high iron. Interesting to think about isn't it?
On the other side of the vitamin D and CCSVI argument is the idea that low vitamin D levels may actually cause venous problems, another angle that needs understanding. Joan recently wrote a note on the importance of vitamin D to vascular health. Vitamin d is key to so many things that a mutation that causes low levels can't be anything but problematic for the whole body.
It may be that treatment for MS will be as simple as management of the low vitamin D and effective treatment of CCSVI.
though it is entirely speculative at this point, that sounds pretty good.
marie
