MTHFR: Gene Mutation

MTHFR: Gene Mutation. Jessica Rogers, MLT.

Objectives. Why MTHFR insufficiency occurs and what causes the deficiency. Identify the pathways that the MTHFR deficiency affects. Explain the effects of MTHFR deficiency on anesthesia..

MTHFR. Methylene tetrahydrofolate Reductase and it’s job. An enzyme that limits the rate of the methyl cycle. Converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate via catalysis. N ecessary for the conversion of homocysteine to methionine..

How may one become deficient in MTHFR?. MTHFR is a gene that codes for the enzyme. One develops this genetic mutation during conception. A patient may be homozygous or heterozygous. According to the NIH, at least 40 mutations have been found. The C677T and A1298C are the two main variations that are observed and tested for. They are situated at location 36.22 on the short arm of chromosome 1.It's thought that homozygous people have a substantially higher risk of developing associated illnesses, and that the C677T variant causes more deficiencies than the A1298C variant. Variants C677T and A1298C Can be heterozygous vs homozygous.

Why is methionine important?. It is an essential amino acid. It is a precursor to cysteine and taurine Cysteine sulfhydryl group: protein structure Taurine: conjugation of bile acids, antioxidation , osmoregulation, membrane stabilization, modulation of calcium signaling. It acts as an antioxidant It is a component of several proteins and hormones such as; Serotonin Melatonin Choline Adrenaline Carnitine.

Complications from having MTHFR. Neural Tube Defects Anencephaly and Spina -bifida Homocystinuria Heart disease, hypertension, preeclampsia, glaucoma, psychiatric disorders, cancer, vascular disease, abnormal clotting, skeletal abnormalities, and cognitive problems Alzheimer's and Autism.

Treatment. There is a variety of different things to try, however, most the time, doctors just treat the symptoms instead of the mutation because they don’t know enough about it. There is no treatment for your genes obviously, however, there are over the counter supplements and prescription supplements that may help a lot. L- methylfolate and Methylcobolamin OTC Prescription L- methylfolate.

Anesthetic implications. There are other problems that arise when it comes the MTHFR gene mutation that no one really knows or has heard of, one of them being anesthesia problems. By permanently oxidizing the cobalt atom of vitamin B12, NITROUS OXIDE INHIBITS the vitamin. The homocysteine remethylation route and the folate cycle meet at the location of methionine synthase. B12 is needed as a cofactor. Oxidative inhibition of methionine synthase causes a persistent rise in plasma homocysteine levels and a deficiency in physiologically active folate. Following nitrous gas anesthesia, patients with homozygosity for MTHFR 677T or MTHFR 1298C saw considerably greater plasma total homocysteine concentrations than those with wild-type MTHFR..

Anesthetic implications Cont.. S-Adenosy•l- Homocysteine Homocysteine/ Methionine Pathway S-Methy1- THE N20 Folate Cycle Tetra hydrofolate S, TO-Methylene- THE Reductase S, 10.Methybene.THF S•AdenosyImetbionine Methylation (RNA. DNA. Proteins) Methionine Purines Thymidine.

Anesthetic implications: major point. Avoid nitrous oxide ! Be mindful of anticoagulaynts and the possible need for bridge therapy..