Lilja wrote:Red blood cell counts... I can't find it on my test sheet. Is it erytrocyts? Why do we want to know if we have a gene mutation?
Yes, red bood cells are actually erythrocytes (in English). Most people in this country only know them as red blood cells, but erythrocytes is the medical name for them.
That's a good question (about these gene mutations). MTHFR stands for Methylenetetrahydrofolate reductase, which is an enzyme used in the methyl cycle. Most people are not familiar with the methyl cycle, and it's actually a rather complex biochemical process, so let's just say that the methyl cycle is the supporting framework for our physical well-being. Whether or not it is functioning properly determines whether or not we have "normal" resistance to environmental pathogens or toxins. At any rate, a defect at any point in this network of cycles will inevitably affect the remaining processes, and our overall health will suffer as a result. Methyl cycle abnormalities/defects explain why we may be sick due to environmental toxins while no one else in the neighborhood seems to be affected. And though we may not be able to change our DNA, if we know our weak links then we may be able to work around the problems, by devoting proper attention to our special nutritional needs.
Most of us are already treating some of these special needs by withholding from our diet certain food peptides that we cannot properly digest. There's a possibility that the need to avoid certain food sensitivities may be prima facie evidence that we have MTHFR gene irregularities. The main point of all this is that it appears that methyl cycle abnormalities predispose us to health problems. So the bottom line is that if we do not address the issues caused by any methyl cycle abnormalities that we may have, then some of these issues may be contributing to any unexplained or chronic health issues that we are experiencing.
But to get back to the biochemical reason for the existence of MTHFR in the first place, methylenetetrahydrofolate reductase catalyzes (causes or accelerates) the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is a cosubstrate for homocysteine, which is then remethylated to create methionine. Though rather complex, in essence this refers to the way that vitamin B-9 (folate or folic acid) is processed in the body. If those methylation processes are not successfully completed, then intermediate products (such as homocysteine) can cause major health problems. Defects (or genetic variations) of the MTHFR gene are associated with a deficiency of methylenetetrahydrofolate reductase enzyme, and that deficiency may increase susceptibility to problems such as occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, for example. There are probably many other associations that have not yet been discovered.
To get to where the rubber meets the road, if we happen to have certain MTHFR gene defects, we cannot properly convert the common sources of folic acid found in food and supplements. As a result they not only provide no benefits for us, but these inactive forms of folate can build up to toxic levels in the body. To deal with this, we have to avoid conventional sources of folic acid (many foods are "fortified" with it), and we have to supplement our diet with the active form of folic acid, known as L-methylfolate in order to supply our needs. And of course there are other nutritional issues that may need to be addressed, but the description that I have presented here at least describes the basic problem of MTHFR gene defects.
I hope that this is helpful.
Tex