Asked by: Musa Feyhscience genetics
Is Mthfr gene mutation clinically significant?
Last Updated: 15th January, 2020
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Herein, what are symptoms of Mthfr gene mutation?
Symptoms of a MTHFR mutation
- cardiovascular and thromboembolic diseases (specificallybloodclots, stroke, embolism, and heart attacks)
- bipolar disorder.
- colon cancer.
- acute leukemia.
- chronic pain and fatigue.
One may also ask, is a sacral dimple a sign of Mthfr? Most sacral dimples do not cause anyhealthissues. In some cases, a sacral dimple can be asignof an underlying spinal problem. These issues areusually minor.Sometimes they can include conditions such as spinabifida or atethered spinal cord.
Besides, what does the Mthfr gene mutation cause?
The methylenetetrahydrofolate reductase(MTHFR)gene contains the DNA code to producetheMTHFR enzyme. This test detects two of the mostcommonmutations. When there are mutations orvariations inthe MTHFR gene, it can lead to seriousgeneticdisorders such as homocystinuria, anencephaly, spinabifida, andothers.
Why is Mthfr important?
Here's what we know about MTHFR. TheMTHFRgene contains instructions for making an enzymethat'simportant for metabolizing folate (also called folicacid orvitamin B9). MTHFR also helps our cellsrecyclehomocysteine, a chemical in the blood, into methionine, abuildingblock for proteins.