It follows that SAMe plays an important role in the prevention of diseases related to altered genetic and neurotransmitter profiles including depression, anxiety, and MTHFR gene mutation. 8 Adequate levels of SAMe and folate must be maintained for proper DNA, protein, and neurotransmitter production. Without the participation of 5-MTHF in this process, SAMe and neurotransmitter levels decrease in the cerebrospinal fluid. 7 SAMe, the downstream metabolite of methionine, is involved in numerous biochemical methyl donation reactions, including reactions forming monoamine neurotransmitters. In a patient with MTHFR mutation(s), the active metabolite of folate, 5-methyltetrahydrofolate (5-MTHF), participates in the remethylation of homocysteine to create methionine at a reduced rate. 6 These studies suggest potential clinical relevance beyond controlling homocysteine levels for heterozygous MTHFR individuals. 4, 5 Another study indicates that a compound heterozygous patient may even encounter additional complications beyond that of a homozygous C677T patient.
2, 3 The British Women’s Heart and Health study and a meta-analysis found evidence for intermediate risk of depression (closely related to anxiety) for individuals with heterozygous mutations. 3 Even though heterozygous mutations impair the regulation of homocysteine, adequate folate levels are believed to “cancel out” this defect. 1 Compound heterozygous MTHFR mutations are less well understood and are not generally believed to be clinically relevant. The frequency of the C677T polymorphism of MTHFR in the Caucasian population is 12% homozygous and up to 50% heterozygous. The most common MTHFR mutation is the MTHFR C677T mutation. They play a suspected role in several physiologic symptoms-including anxiety. MTHFR mutations, for which at least 24 known genetic polymorphisms have been identified, are associated with metabolic dysfunction. Great awareness of the effects of B-vitamin supplementation in the context of varied heterozygous MTHFR mutations could be useful in clinical practice. This case outlines the challenges in treatment and the potential for improvements in the management of individuals with MTHFR gene mutations.
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