Vitamin D Deficiency In MS: What The Genetic Link Means


For nearly a decade researchers worldwide have been investigating a link between vitamin D deficiency and autoimmune diseases, particularly multiple sclerosis (MS). In patients with the autoimmune hyperthyroid disorder Graves' disease the link has been explored even further with evidence suggesting that genetic polymorphism of the vitamin D receptor sometimes seen in patients with Graves' disease prevents adequate absorption of the vitamin D hormone. Whether the problem in autoimmune diseases is one of poor vitamin D absorption or the fact that labs have difficulty measuring vitamin D effectively in general, a number of studies have shown that vitamin D levels are often deficient or inadequate in patients with multiple sclerosis and other autoimmune disorders. In 2008, after finding low levels of vitamin D in children with MS, the American Academy of Pediatrics raised the minimum amount of vitamin D recommended for children.

In the latest study reporting vitamin D deficiency in multiple sclerosis published in PLoS Genetics in February 2009, researchers from the University of Oxford and the University of British Columbia demonstrated a genetic link for this observed hormone deficiency. Previous studies have shown that the immune system gene HLA-DRB1 on chromosome 6 is commonly seen in patients with MS. Among Northern Europeans who have this gene, the most common variant, out of 400 possible variations, is HLA-DRB1*1501. Individuals with this allele have been reported to have a three-fold greater risk of developing MS.


University of Oxford researchers George Ebers and Julian Knight report in this study that HLA-DRB1*1501 contains a receptor or switch that is activated by one form of vitamin D. This switch or vitamin D response element is not seen in other variants or alleles of the HLA-DRB1 gene that are not associated with MS. The researchers hope that testing for this gene variant can help in showing risk for vitamin D deficiency associated with MS.

Like other immune system genes, HLA-DRB1 determines which protein antigens the immune system will react with, and it determines the severity of the immune system's response to a particular antigen. To further complicate matters, other HLA antigens can offer protection and prevent certain immune system reactions, particularly to the body's own proteins (the situation in autoimmune diseases), from occurring. If vitamin D deficiency in MS isn't a lab anomaly related to measuring the inactive hormone and it is truly related to disease development, the question still remains whether the problem is one of inadequate absorption of vitamin D or poor hormone conversion.

As a result of this study's release, sales of vitamin D supplements in Scotland, where the incidence of MS is the highest in the world, have skyrocketed. However, there's no data to show that supplements are the answer for vitamin D deficiency. In fact, in high doses supplements could make matters worse. In a study published in Science Daily in January 2008, Trevor Marshall, Ph.D. a professor at Australia's Murdoch School of Biological Medicine and Biotechnology reported that supplements of vitamin D3, the recommended form for supplements, can interfere with vitamin D's ability to react with the vitamin D receptor, altering the genetic expression of vitamin D. The Vitamin D receptor, a protein on cells that reacts with vitamin D molecules is involved in the repression or transcription of hundreds of genes associated with diseases ranging from cancers to multiple sclerosis. The Vitamin D receptor also regulates innate immunity particularly the body's natural antimicrobial peptides. By persistently activating the Vitamin D receptor with vitamin D3 supplements, other natural proteins are prevented from reacting with the vitamin D receptor. This ultimately suppresses the immune system. Marshall as well as other experts in the field suggest that a minimum daily exposure of 15 minutes to natural sunlight without the use of sunblock offers adequate protection against vitamin D deficiency.

The debate in clinical laboratories still continues over which form of vitamin D should be measured. Research suggests that tests for 25-OH Vitamin D3 may provide a better picture of vitamin D status. Roche introduced the first tests for 25-OH Vitamin D3 in the fall of 2008 and as this test becomes more popular, a different picture of vitamin D deficiency may emerge.



Im so happy to see that the vitamin-D hype is at least by someone seen for what it is If one where to do a reasessment of the actual raw data - one would under no curcumstances be able to draw a clear conclution in favour of consuming vast amounts of this hormone. If one thinks its that simple, I'd try reading about the molecular functionality of vitamin D in the body. - no one in the right mind can ignore the vast methodologically flawed conclution drawn by the majority of researchers. Thank god for resarchers like Dr. Marshall that go against the stream with far more accurate conclutions based on actual molecular research:)
There are now multiple studies looking at vitaminD role in cancer prevention, the data is quite overwhelming. There is a good summary of all the data at this web site Everyone should read this! Best Mike
While it's very interesting and exciting to find a suspected link between MS and Vitmin D deficiency, how do we know if the deficiency is due to a lack of Vitamin D or, is Vitamin D deficiency a RESULT of having MS? I personally find that just sitting in indirect sunlight alleviates the achiness and the depression. While I will try to add more vitamin D into my diet i.e. sunlight, leafy green veggies, I wouldn't be too quick to beef up on supplements. The results aren't always good. I grew up in the central Nevada desert in a town of just 200 people, 4 of us came down with MS. Plenty of sunshine...puzzling. Best to all, Robin
The risk of reverse causation ie is MS producing the vitamin D deficiency becomes less when you show the relationship in multiple populations around the world and in different conditions ie cancer. If you demonstrate a dose response that is another strong indicator or cause and effect-that has been demonstrated in many cancer studies. Then if you have a scientific rationale to support the hypothesis backed up by lab data this just about confirms the cause and effect relationship. You should also know that diet is a poor contributor to total vitamin D levels (10% usually) You get your vitmain D from the sun or supplements. The fact that you grew up in a sunny area does not discount the data as many living in sunny areas are still vitamin D deficient as has been shown in many publications Hope that helps
Robin, I find it interesting that you, too, lived in central Nevada and are wondering about a seemingly high rate of MS diagnoses. Me, too. I personally know 5 people who have been diagnosed in the last 10 years from Lovelock, a town of between 2,000 and 3,000 people, and there probably are others that I don't know about. I was diagnosed with Lyme disease 5 years ago and shared many of the same symptoms with these MS patients: brain fog, vision problems, speech difficulties, tremors, even brain lesions. Pershing County had the 1st documented case of Lyme in the state roughly 15 years ago, but doctors have rotated in and out and no one seems to remember. I tested negative on the standard tests, but fortunately was diagnosed and treated based on symptoms alone. I am much better now after starting the Marshall Protocol 3 years ago while the others continue to deteriorate. One of those diagnosed with MS now lies in a convalescent home, unable to walk, talk, or even roll over in bed. Antibiotic treatment for an infection, led to her having feeling in her feet. Coincidence?
Before you chomp down on any more 25D-laced 25D-lights, thinking it is a great fix per studies showing 25D deficiency associated with disease states, then thoughtfully consider if the study promoting the causation argument lacks the in silico molecular evidence. The science of this century points clearly to the correct and woefully ignored yet very powerful alternate hypothesis: 25Detours your body's police 1,25D-partment, so your immune mechanism fails to protect and repair. If the real causation answer is in the molecular in silico evidence, not in older sopping wet biology research that only can show a relationship, but not define why that relationship exists (nevermind D proponents that stand to profit from the sale of additives, fortifications, supplements and even tanning beds), then ignoring the alternate hypothesis and the in silico evidence means D-at-Dinnertime will result in 25D-Disease and eventually, 25D-Death.
Many people with MS are now finding that they actually have Lyme Disease which presents with many of the same symptoms. Many with Lyme have also found out that they have low vitamin D levels and find that vitamin D actually can help to some degree.
When talking about "10% D3 from food" and rest from sunshine, this is only "today", when the total D3 intake probably is lower than ever before in man's history, excluding some years of sun-block due to volcanic eruptions. Followed by epidemics? Today it is hard to get D3 from food in the winter on higher latitudes: Too much of the food we eat are produced indoors or out of the sun. That's why I and many others pay more for truly free range animals - without hesitation. Would not eat pig meat unless pigs were reared outside which was common before but is a virtual impossibility today. Most people that avoid these meats do it due to the antibiotics they are loaded with. The lack of sunlight and reasonable freedom is the reason for the antibiotics to be needed in the first place... Battery chicken regulations ~ 15 chickens per square meter. Free Range:Almost the same inside, but "access to outdoors" with minimum 1 m2/bird! With these "free range" standards we can expect very little real D3 or omega 3 in our chicken meat... And don't mention farmed, or "organic" salmon. Would never touch it for same reasons: stocking density - hardly any omega-3, don't know about the D but hard to expect any! Compare our situation with rearing tropical Lizards indoors: Some types must have UV-B light, else they will quickly get sick and perish due to D-deficiency. Other types will die quickly yet bathing in the same "sunlight". These are the omni/carni-vores that must get their D3 from eating D3-packed prey, summer and winter!