Genetic risk factors play an important role in the development of disease/s. In recent times, I have requested blood tests to determine if a client is predisposed to a condition/disease, particularly if there is a family history. The gene test I have started to request is called MTHFR, which stands for methylenetetrahydrofolate. The MTHFR gene plays an important role in the development of such conditions as Stroke, Cardiovascular Disease, Breast Cancer, Ovarian Cancer, Endometrial Cancer, Colorectal Cancer, Spina Bifida, Schizophrenia, Anxiety, Depression, Infertility, Autism, Alzheimer's disease and Dementia. The MTHFR gene provides instructions for making an enzyme (a substance that assists in starting a reaction) called methyltetrahydrofolate reductase. It is this enzyme that plays a role in processing amino acids, the building blocks of proteins. Moreover, MTHFR reductase is also important for chemical reactions involving folic acid. In short, it is folate, in this case, that assists in the conversion of the correct enzyme to produce vital proteins and additional compounds that the body requires for optimal health. Of particular note, this reaction is required for the multistep process that converts an amino acid called homocysteine to an amino acid called methionine. It is this reaction that, if incomplete, can result in the onset of the foregoing conditions. To maintain optimal health it is necessary that we produce what is called a funtional form of MTHFR reductase. This is the enzyme I mentioned earlier that is involved in the processing of amino acids. Without functional MTHFR reductase, homocysteine cannot be converted to methionine. When this occurs, homocysteine builds up in the blood stream and methionine is reduced. It is this imbalance that is involved in the development of a genetic mutation, and ultimately a serious condition/disease taking place. There a several variations (polymorphisms) in the MTHFR gene that have been associated with the aforementioned conditions. For example, homocysteine has been reported as being involved in the development of Alzheimer's disease, yet it is the breakdown of homocysteine, by way of the MTHFR gene, that is problematic in the development of Alzheimer's disease. A common genetic variation in the MTHFR gene in which cytosine (involved in the production of our DNA) is replaced by another DNA base called thymidine is involved in increasing a person's homocysteine levels by 20 percent. For this reason, polymorphisms of the MTHFR gene can predispose individuals to elevated levels of homocysteine, and in turn, increase the level to which an individual is greatly predisposed to Alzheimer's disease. In determining whether an individual has the MTHFR gene, blood tests identify two common DNA sequence variants in the MTHFR gene, C677T and A1298C. It is these DNA sequence variants that result in changes in the DNA and are associated with increased homocysteine levels in the blood.
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