Rare gene links vitamin D and multiple sclerosis

A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis.

Rare gene links vitamin D and multiple sclerosis

Postby Direct-MS » Thu Dec 08, 2011 11:27 am

http://www.bbc.co.uk/news/health-16086004
Importantly, this study demonstrates beyond any reasonable doubt that vitamin D deficiency is part of MS. This in turn may force the MS societies to fund a prevention trial using vitamin D.
Organizations such as MSCC and NMSS have always ignored the concept of prevention presumably because they realize it will ultimately be their demise.
The concept of adequate vitamin D for MS prevention causes them as much angst as the concept of CCSVI treatment helping persons with MS.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby Direct-MS » Thu Dec 08, 2011 3:52 pm

Good news. I just noticed on the web the following announcement
"International summit convened on vitamin D and MS prevention December 12-13 – This Chicago meeting brings together experts to begin constructing a plan for how to design a clinical trial to test whether vitamin D supplements can prevent MS in people at high risk for developing the disease."
It will be intersting to see if this is just window dressing or if real action results from this meeting. The need for such a trial is obvious but the question is - does NMSS have the will (they have the cash) to support such a critically important, non-drug initiative that potentiallly might mean the end of NMSS in the long run.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby cheerleader » Thu Dec 08, 2011 4:44 pm

Excellent News! Glad that your hard work and focus on vitamin D research is continuing to bear fruit, Dr. Embry!
Just to add to this thread, to keep it CCSVI-relevant, since this is the CCSVI forum :)
here's a note I wrote up on FB regarding the affects of vitamin D levels on cerebral vasculature. Low vitamin D levels in serum are related to brain atrophy in neurological disorders.

From Scientific American:
http://www.scientificamerican.com/blog/ ... 2010-07-12

Low vitamin D in Parkinsons and Dementia--

"The first study, led by Paul Knekt and colleagues at the National Institute for Health and Welfare, Finland, examined levels of vitamin D in the blood of 3,173 Finnish men and women aged 50-79 determined to be free of Parkinson's disease at the start of the study. The researchers then examined the incidence of Parkinson's disease in these participants over a 29-year follow-up period. They found that participants with the highest levels of vitamin D (more than 50 nmol/L) had a 65 percent lower risk of developing Parkinson's disease than those with the lowest vitamin D levels (less than 25 nmol/L).

In the second study, David Llewellyn of the University of Exeter and colleagues examined vitamin D levels among 858 Italian men and women age 65 and older. They found that more than half of the participants with dementia were vitamin D deficient .
___________________________________________________________

And here is news of a study at SUNY Buffalo, from earlier this spring:

"Low vitamin D levels may be associated with more advanced physical disability and cognitive impairment in persons with multiple sclerosis, studies conducted by neurologists at the University at Buffalo have shown.
http://www.sciencedaily.com/releases/20 ... 153955.htm

Their results, reported at the American Academy of Neurology meeting, held earlier this month, indicated that:
The majority of MS patients and healthy controls had insufficient vitamin D levels.
Clinical evaluation and magnetic resonance imaging (MRI) images show low blood levels of total vitamin D and certain active vitamin D byproducts are associated with increased disability, brain atrophy and brain lesion load in MS patients.

A potential association exists between cognitive impairment in MS patients and low vitamin D levels."

__________________________________________________________

Now, how could this situation be compounded when we consider CCSVI as a factor in developing MS? I believe it's all about protecting the brain from further vascular damage. Here's a wonderful research paper on how Vitamin D can provide "vasculoprotection" of the brain.

http://ddr.nal.usda.gov/bitstream/10113 ... 182071.pdf

"Vitamin D may help to protect against cognitive deterioration and dementia, specifically, vascular dementia and Alzheimer’s disease, through vasculoprotection (Lind et al., 1987; Burgess et al., 1990; O’Connell et al., 1997; Pfeifer et al., 2001; Wang et al., 2001; Zittermann et al., 2003; Wang et al., 2008a,b), preservation of neurons (Sutherland et al., 1992; Landfield and Cadwallader-Neal, 1998; Brewer et al., 2001), and protection against risk factors for cognitive dysfunction (Lind et al., 1987; Burgess et al., 1990; Hypponen et al., 2001; Pfeifer et al., 2001; Li et al., 2002, 2004; Zittermann et al., 2003; Bisc- hoff-Ferrari et al., 2004; Wang et al., 2008a,b).

We did observe an inverse association between 25(OH) D concentration and presence of white matter hyperintensities and large vessel infarcts; indicators of cerebrovascular disease (Buell et al, in preparation). Consistent with this finding, we observed a positive association between vitamin D concentrations and the integrity and structural arrangement of white matter fibers using diffuser tensor imaging. Further studies designed to provide information on the temporal relationship of 25(OH)D and brain morphology are warranted.
420 J.S. Buell, B. Dawson-Hughes / Molecular Aspects of Medicine 29 (2008) 415–422"


cheer
Husband dx RRMS 3/07
dx dual jugular vein stenosis (CCSVI) 4/09
http://ccsviinms.blogspot.com
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Re: Rare gene links vitamin D and multiple sclerosis

Postby MrSuccess » Fri Dec 09, 2011 9:44 am

regarding the Oxford study .... it would be interesting to know the names of all of
the collaborating research scientist's. I'm certain everyone reading this , is asking themselves the question ..." What are my vitamin D levels ? "

Is there anyway to determine your D level .... without visiting your doctor ?

It is information like this ..... that MrSuccess cannot wait for '' WATSON '' to digest and give us an opinion on.

It DOES tie in with working shiftwork ....... the answers are slowly coming into focus. :idea:



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Lets assist pwMS

Postby MarkW » Fri Dec 09, 2011 10:34 am

Dr Ashton Embry wrote:
"Good news. I just noticed on the web the following announcement
"International summit convened on vitamin D and MS prevention December 12-13 – This Chicago meeting brings together experts to begin constructing a plan for how to design a clinical trial to test whether vitamin D supplements can prevent MS in people at high risk for developing the disease."
It will be intersting to see if this is just window dressing or if real action results from this meeting. The need for such a trial is obvious but the question is - does NMSS have the will (they have the cash) to support such a critically important, non-drug initiative that potentiallly might mean the end of NMSS in the long run."

I predict that doing battle over Vitamin D3 and demanding more trials and the end of NMSS will slow down the introduction of Vit D3 supplementation. I hope that Dr Ashton Embry will realise that a meaningful large scale testing for a drug that costs less than 10 US cents a day will be difficult to finance to achieve meaningful results.
A population study (give all pwMS 5000iu/day) is the scale of data needed.
Sad that internal MS organisation battles occupy so much energy.
Kind regards,
MarkW
Mark Walker - Oxfordshire, England. Registered Pharmacist (UK). 11 years of study around MS.
Mark's CCSVI Report 7-Mar-11:
http://www.telegraph.co.uk/health/8359854/MS-experts-in-Britain-have-to-open-their-minds.html
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Re: Rare gene links vitamin D and multiple sclerosis

Postby cheerleader » Fri Dec 09, 2011 2:41 pm

Marie made a great point about this study on FB--
If this mutated gene were the only factor in developing MS, than the parents, who carry this gene, would also have MS. And they don't.

Obviously, 35 out of 35 pwMS tested having this genetic mutation is huge, and vitamin D absorption is part of MS.
Get your serum D3 levels tested regularly.
Jeff's were 40nmol (low) a couple years ago, and now are around 75 (high normal)
He gets sun and takes 4,000IU daily. It's working for him, but everyone is different and should work with their doctors.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby Cece » Fri Dec 09, 2011 2:53 pm

I think it was 35 people who had the mutated gene out of 3000 people with MS. But the parents had the mutated gene as well, and the children with MS had inherited the mutated gene. It's really interesting research. Not living in California (lol) sunshine is harder to come by, but I am taking my 5000 iu vitamin D3, and my children take vitamin D as well.

The average person with MS does not have this mutated gene. 35 out of 3000 would be about 1% of pwMS would have the mutated gene. But it's significant because it ties in the vitamin D connection with MS. Vitamin D is critical for endothelial health.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby cheerleader » Fri Dec 09, 2011 3:03 pm

Cece---thanks for clearing that up. I haven't read the full paper. 1% is a lot less than 100% ...
so it was 100% of the kids of parents w/the mutation who had MS. got it.
I'll see if I can dig up a link to the compete paper.

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.

come visit California!! We've got sun -even in December :)
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Re: Rare gene links vitamin D and multiple sclerosis

Postby se1956 » Sat Dec 10, 2011 2:57 am

I think different risk factors may trigger different forms of MS:

gene
and/or
CCSVI
and/or
Virus
and/or
….
and/or
liver metabolism defect (my guess)

Because a woman went from EDSS 5 to zero in 3 years after a liver transplant.

R.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby NHE » Sat Dec 10, 2011 3:46 am

se1956 wrote:and/or
liver metabolism defect (my guess)

Because a woman went from EDSS 5 to zero in 3 years after a liver transplant.


Interesting. Do you have a link for this news regarding the liver transplant? That would be great to read.

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Re: Rare gene links vitamin D and multiple sclerosis

Postby eric593 » Sat Dec 10, 2011 3:57 am

And yet this recent study showed no benefit to increasing levels of vitamin D; possibly an inverse, harmful association to mega D supplementation for those already with MS:

While there were no differences between the groups in MRI findings, clinical status worsened in the high-dose group, with a median disability score of 3 at six months compared with a median score of 2 in the low-dose group (P=0.04). The final disability score correlated with the baseline score (r = 0.79, P<0.001). Among the 11 patients receiving the high dose, four had clinical relapses during the study, compared with none in the low-dose group (P=0.04). A possible explanation for the differences between the groups on clinical outcomes, though not on MRI results, could reflect changes in response to their glatiramer or interferon, though this would need to be explored in larger trials, according to the investigators.

"Correlations of lower MS prevalence, activity, and mortality with high levels of vitamin D3 nutrition have led to the hypothesis that high levels of vitamin D could be beneficial for MS," they observed.

"Our [randomized clinical trial] outcomes do not support this hypothesis," they stated.


http://www.medpagetoday.com/clinical-co ... osis/29235
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Re: Rare gene links vitamin D and multiple sclerosis

Postby CureOrBust » Sat Dec 10, 2011 4:51 am

NHE wrote:Interesting. Do you have a link for this news regarding the liver transplant? That would be great to read.

http://www.ncbi.nlm.nih.gov/pubmed/15595263
http://www.thisisms.com/forum/general-discussion-f1/topic6044.html
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Re: Rare gene links vitamin D and multiple sclerosis

Postby Cece » Sat Dec 10, 2011 8:33 am

se1956 wrote:Because a woman went from EDSS 5 to zero in 3 years after a liver transplant.

R.

From the research, it seems the authors believed the improvement in MS to be due to heavy immunosuppressive drugs given with the transplant and long term maintenance dosage of tacrolimus "although an effect of donor allograft itself can not be excluded."

Patients would not get a liver transplant without the immunosuppressive drugs so no way to separate out which one had the effect.
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Re: Rare gene links vitamin D and multiple sclerosis

Postby Bethr » Sat Dec 10, 2011 1:12 pm

I'm finding this all very interesting and this genetic information starts to tie in other theories I have swimming around in my head.

Firstly liver transplants: Maybe a tie in between porphyria and MS (well they are are often diagnosed as each other)

Liver transplantation as a cure for acute intermittent porphyria
Original Text
Zahir F Soonawalla MS a, Taner Orug MD a, Michael N Badminton MRCPath b, Prof George H Elder MD b, Prof Jonathan M Rhodes MD c, Simon R Bramhall MD a, Elwyn Elias MD a Summary
Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin precursors, resulting in long-term damage, poor quality of life, and shortened life expectancy. There has been no cure for this condition, but replacement of deficient hepatic enzymes might restore excretion of porphyrin precursors to normal and prevent acute attacks. We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation. After the transplant, concentrations of haem precursors in the patient's urine returned to normal, and 1·5 years later her quality of life was good. Our report suggests some hope of cure for selected patients with severe forms of this disease


http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(04)15646-8/abstract

The other tie in is that Porphyria is partly genetic/partly environmental, it is triggered by upsetting the Cytochrome P450 enzyme pathways, usually by ingesting certain foods and drugs that use those P450 pathways, stress, illness etc. Not everyone with a porphyria gene will get sick, it's the enviromental triggers or luck of the draw....

I can tie that in with the gene code CYP27B1 found in the MS gene study (link above and in it's homoygous form causes rickets, In it's heterozygous form it seems to be linked to low vitD deficiency/MS). So what is the long name for CYP27B1? Amazingly it is:

CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 [ Homo sapiens ]

and Vitamin D is metabolised through the Cytochrome P450 enzyme pathway.

Also known asVDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha
Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
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Re: Rare gene links vitamin D and multiple sclerosis

Postby CureOrBust » Sat Dec 10, 2011 6:08 pm

Cece wrote:Patients would not get a liver transplant without the immunosuppressive drugs so no way to separate out which one had the effect.
I tried checking all the immunosuppressives she was on, and they all have been tested on MS with less than stellar results. I think the big thing to take away from this case is that it was ONE patient.
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