A 50 year old man with significant family history of cardiovascular disease came to my office. His concern was he was newly diagnosed with a aortic aneurysm.
We found that his homocysteine was elevated and he had mutation in his MTHFR gene that was decreasing his ability to methylate by 50%.
Methylation is vital to numerous biological pathways including detoxification, DNA repair and synthesis. In addition to cardiovascular risk, other conditions associated with this genetic defect are depression, fatigue, anxiety, hypothyroidism, neuropathy, addictions, autism, pulmonary embolism, cancer etc.
Good news is that, fortunately for my patient, this condition can be helped by addition of active folate and other methyl donors and appropriate dietary changes.