Hi, anniekim.
Quite a few people have had the methylation SNPs (sincgle nucleotide polymorphisms) panel offered by Dr. Amy Yasko (
http://www.doctoramyyasko.com or more specifically,
http://www.holisticheal.com/comprehensive-methylation-panel-with-methylation-pathway-analysis.html).
It has 30 SNPs on it that she has selected. The basis for her selection is that these SNPs are associated with the methylation cycle and related pathways, and that they assist in deciding about treatment for the individual. She uses this panel primarily for treating cases of autism, but it has also been used in ME/CFS and in several of the adult neurological disorders. I initially encouraged people to try the full Yasko treatment for ME/CFS, and some people have done so. However, it is very complex and fairly expensive, so that it was not feasible for many PWMEs to use. Therefore, in early 2007, I proposed a simplified version of it. I have also encouraged people to run the Health Diagnostics and Research Institute methylation pathways panel to determine whether there is a partial methylation cycle block and glutathione depletion, and to monitor the progress of treatment. Dr. Yasko does not use this panel, but I find it to be more direct than inferring the status of these parts of the metabolism from the set of tests that she uses, including the SNPs panel. I have no objection to using the tests she recommends, and in fact, if a person has the resources to do so, they can be very helpful. But for someone who is looking for a more streamlined approach at lower cost, I favor running the methylation pathways panel, and if it shows these problems, then to try the simplified treatment approach.
In addition to the simplified methylation protocol that I have proposed, there are now several other methylation-type treatments in use by various people. Freddd, on these forums, encourages the use of a somewhat different protocol that has helped him and several others. The simplified treatment will not work for him, and apparently not for some others, either. The reasons appear to be genetic, but we have not completely nailed them down yet. I think they involve the MTHFS and the MMACHC genes. There are also other methylation-type protocols in use by various physicians. All of them have in common that they include a fairly high dose of B12, either sublingual or injected, and a more normal dosage of folate, most of them using the active forms of folate, which are 5L-methyl tetrahydrofolate and folinic acid. Some people appear not to be able to tolerate folinic acid, and some do not tolerate folic acid or are not able to use it very well.
The SNPs panels give information about tendencies, and they can help to determine details of treatment that might be most effective for a given person, but they alone don't determine what is actually going on. A person has the same genes before they develop ME/CFS as they have after they have become ill. The genes may give them a vulnerability, but other factors are necessary to cause the onset of this disorder.
Lately, quite a few people have gotten the 23andme.com genotype panel. It includes about 1 million SNPs, and the price is lower than the Yasko panel. It does not include all the SNPs on the Yasko panel, even though the total is a million compared to 30. It is estimated that there is a total of 10 million possible SNPs in the human genome, so even though the 23andme panel is very large, it still characterizes only about one-tenth of all the SNPs that are possible to have. But for the vast majority of these SNPs, no one yet knows what their effects are. A lot more research will need to be done to determine this. I think it will need to be focused, based on hypotheses about which parts of the metabolism are most important. There is a trend these days to do research without specific hypotheses. They call this "data mining" or "data-driven research." They are hopeful that by doing a lot of number-crunching with computers, the understanding will somehow just drop out. I personally don't believe that this is a very efficient or productive way to do science. The genome is so complicated that this approach usually doesn't lead to much in the way of understanding what is going on. I prefer what is called "hypothesis-driven" research. Developing hypotheses is more of a right-brained (combined with left-brained) activity, while the data mining is pretty much just left-brained. Computer analysis can be very helpful, but I think you have to be able to tell the computer what to look for, and that's where a hypothesis comes in. Well, so much for my philosophical rant. I hope some of this is helpful.
Best regards,
Rich
Best regards,
Rich