Copaxone

[LilOlLady]

COPAXONE

Medicare pays $1,230.74 a month for my Multiply Sclerosis medication Copaxone. I canceled it because it did not make me fill like a million dollars and the cost to Medicare would have been over a million dollars a year. I had canceled it before I knew the cost because I was not willing to take a medications with the side affect even if I did not experience them. I am not willing ,with a good conscience, to stick the taxpayers for a million dollars a year just to keep me from having so many MS exacerbations and will stick with steroids during a relapse that brings me out of the relapse almost immediately.

 

[waltky]

Researchers say a variant gene which reduces vitamin D levels could be directly linked to MS...

Rare gene links vitamin D and multiple sclerosis
8 December 2011 - A rare genetic variant which causes reduced levels of vitamin D appears to be directly linked to multiple sclerosis, says an Oxford University study.

UK and Canadian scientists identified the mutated gene in 35 parents of a child with MS and, in each case, the child inherited it. Researchers say this adds weight to suggestions of a link between vitamin D deficiency and MS. The study is in Annals of Neurology. Multiple sclerosis is an inflammatory disease of the central nervous system (the brain and spinal cord). Although the cause of MS is not yet conclusively known, both genetic and environmental factors and their interactions are known to be important.

Oxford University researchers, along with Canadian colleagues at the University of Ottawa, University of British Columbia and McGill University, set out to look for rare genetic changes that could explain strong clustering of MS cases in some families in an existing Canadian study. They sequenced all the gene-coding regions in the genomes of 43 individuals selected from families with four or more members with MS. The team compared the DNA changes they found against existing databases, and identified a change in the gene CYP27B1 as being important. When people inherit two copies of this gene they develop a genetic form of rickets - a disease caused by vitamin D deficiency. Just one copy of the mutated CYP27B1 gene affects a key enzyme which leads people with it to have lower levels of vitamin D.

Overwhelming odds

The researchers then looked for the rare gene variant in over 3,000 families of unaffected parents with a child with MS. They found 35 parents who carried one copy of this variant along with one normal copy. In every one of these 35 cases, the child with MS had inherited the mutated version of the gene. The likelihood of this gene's transmission being unconnected to the MS is billions to one against, say the researchers. Prof George Ebers, lead study author at Oxford University, says the odds are overwhelming. "All 35 children inheriting the variant is like flipping a coin 35 times and getting 35 heads, entailing odds of 32 billion to one against."

He added: "This type of finding has not been seen in any complex disease. The uniform transmission of a variant to offspring with MS is without precedent but there will have been interaction with other factors." Prof Ebers believes that this new evidence adds to previous observational studies which have suggested that sunshine levels around the globe - the body needs sunshine to generate vitamin D - are linked to MS. He maintained that there was now enough evidence to carry out large-scale studies of vitamin D supplements for preventing multiple sclerosis. "It would be important particularly in countries like Scotland and the rest of the UK where sunshine levels are low for large parts of the year. Scotland has the greatest incidence of multiple sclerosis of any country in the world."

More BBC News - Rare gene links vitamin D and multiple sclerosis

 

[waltky]

Gene flaw link to MS drug failure...

Gene flaw 'explains why drugs failed to treat MS'
9 July 2012 - The findings provide more understanding of MS

Scientists have identified why a once-promising class of drugs do not help people with multiple sclerosis. An Oxford University team say a genetic variant linked to MS means the drugs which work for patients with other autoimmune diseases will not work for them. The team, writing in Nature, say the drugs can actually make symptoms worse. Experts say the work shows how a person's genetic make-up could affect how they responded to treatment. The drugs, called anti-TNFs, work for patients with rheumatoid arthritis and inflammatory bowel disease, but they have not done so for patients with MS and researchers were unsure why.

Mimicking

The Oxford University team looked at one particular genetic variant, found in a gene called TNFRSF1A, which has previously been associated with the risk of developing MS. The normal, long version of the protein sits on the surface of cells and binds the TNF signalling molecule, which is important for a number of processes in the body. But the team discovered the variant caused the production of an altered, shortened version which "mops up" TNF, preventing it from triggering signals - essentially the same thing that TNF blocking drugs do. This explains why a study 10 years ago found the drugs make MS patients significantly worse and exacerbate the disease, the researchers suggest.

Professor Lars Fugger of the Nuffield Department of Clinical Neurosciences, who led the work, said: "The hope has been that analyses of the whole human genome would lead to findings that are clinically relevant. "We show that this is possible. It's one of the first such examples, certainly in autoimmune disease." He added: 'Whilst the TNFRSF1A gene variant is linked to a modest risk of developing MS, the drug that mimics the effect of the variant has a considerably greater impact. "The effects of genetic variants influencing disease risk or resistance can be amplified by drugs. This has often been completely overlooked, but will be critical for using genetic findings in a medical context."

Nick Rijke, director of policy and research at the MS Society, said: "There are many genes associated with MS, but we know little about the role they play or the influence they have on the condition. "This important study has shown that some of your genes can play a part in deciding whether or not you respond to a treatment. "In the future this could help ensure that people with MS are offered the drug treatments that are most likely to work for them."

BBC News - Gene flaw 'explains why drugs failed to treat MS'