Guest guest Posted August 21, 2012 Report Share Posted August 21, 2012 Hi, The MTHFR gene is methylene tetrahydrofolate reductase, an enzyme that is responsible for turning the normal form of folate (5,10 methylene-tetrahydrofolate) into the form that is used in the body, 5 methyl-tetrahydrofolate. This vitamin is part of the methylation pathway. The mutation you have, 1298C, is in fact not a harmful mutation. From < http://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase > " A1298C SNP (Glu429Ala) At nucleotide 1298 of the MTHFR, there are two possibilities: A or C. 1298A (leading to a Glu at amino acid 429) is the most common while 1298C (leading to an Ala substitution at amino acid 429) is less common. 1298AA is the " normal " homozygous, 1298AC the heterozygous, and 1298CC the homozygous for the " variant " . In studies of human recombinant MTHFR, the protein encoded by 1298C cannot be distinguished from 1298A in terms of activity, thermolability, FAD release, or the protective effect of 5-methyl-THF.[15] The C mutation does not appear to affect the MTHFR protein. It does not result in thermolabile MTHFR and does not appear to affect homocysteine levels. " What that boils down to is that the levels and function of this enzyme in your body are normal. The enzyme made from both genes is functionally normal - this is an example of what is known as a " silent mutation " i.e. one that has no visible effect. You should not need any special supplements because of this mutation. The only likely outcome of your getting special supplements will be a light feeling in your bank account. If for some reason you do want to try the supplements, Dr. Rich van Konynenburg has developed a " methylation protocol " that has benefited some of us with CFS. (didn't help me, however) There are posts of details on Co-Cure (which has a search feature) or he has a web site. He has also posted a simplified protocol on Phoenix Rising at < http://forums.phoenixrising.me/index.php?threads/simplified-methylation-protocol\ -revised-as-of-today.9447/ >. This protocol treats the blockages in methylation that typically result from folate deficiency or inability to turn the dietary folate into the functional one. In the protocol he states that it should be tried for a certain period of time to get results. If by the end of that time you haven't seen major improvements by then, don't bother continuing. Jerry Quote Link to comment Share on other sites More sharing options...
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