Doctor insights on:
Mthfr A1298c Gene Mutation
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Does having the mthfr gene mutation put me at risk for life threatning illness more than the average person? Is there anything I can do 2 help
Depends: Depends on which mutation you have, and if you have one or two mutations. Having two copies of the 677 mutation is a bigger deal than having one copy of the 1298. The 677 and 1298 mutations are each treated differently. But yes, there is help for them. ...Read more
My MTHFR gene mutation test says 'not detected' but the note below it says 'this assay detects the mutation C677T in MTHFR'. Does it mean I have it?
MTHFR mutations: MTHFR is the gene which produces methylenetetrahydrofolate reductase. Over 50 known mutations in this gene cause reduced function of the enzyme. The most common mutation causing homocystinuria is the C677T mutation, which among other problems increases the risk of stroke. I can't tell how many mutations your particular test could detect, but you do not have the C677T mutation. ...Read more
Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?
MTHFR has several forms. And treatments can vary.
Look here for additional information.
http://mthfr. Net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...Read more
The 1298 mutation is not as bad as the 677 mutation. You may have some decreased enzyme function, and would also benefit from methylfolate in small doses as needed. More information here:
Http://drfairchild. Blogspot. Com/2013/10/mthfr. Html ...Read more
Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform
Cannot offer more help than this:
The "story" is still "OUT" and this gene abnormality has now been blamed for just about EVERYTHING from early heart disease to frequent miscarriages! I would be VERY CAUTIOUS about accepting ANY ADVICE particularly the INTERNET about this "condition" If this is a MAJOR issue consult with a Board Certified GENETICIST! My Opinion only...hope it helps. Good Luck Z ...Read more
I am pregnant and have a mthfr gene mutation and I recently read that folic acid is not good for me or the baby and I should take folate instead?
MTHFR: If you've been tested for mthfr mutations and do have one, then your body may not do well with Folic Acid at all. You would benefit more from methylfolate since it bypasses the metabolic step that your system has trouble with. You need a functional medicine or integrative medicine doc who really knows mutations in this enzyme ; can advise you plus collaborate with your ob-gyn doc too. ...Read more
I have a mutation of the mthfr gene and have had a thermal ablation. I have had 4 pregnancies and lost them. Uterine lining is 3.74 can I carry a baby?
MTHFR Gene mutation: Here's some important information on the mthfr gene mutation... http://doccarnahan. Blogspot. Com/2013/10/whats-big-deal-about-methylation-update. Html. ...Read more
Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?
Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more
Does the MTHFR genetic mutation cause OCD? If you were treat the mutation, would the ocd improve? Any articles or references about ocd and MTHFR?
OCD and other: Psychological issues have been found to be linked to the MTHFR mutation. The Spectracell lab in Texas has a test for this and some info on their website. The very best to you. Lots of room for hope. ...Read more
What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it or feel it is a problem
MTHFR Gene mutation: If you'd like to do more reading on the health effects of mthfr gene mutation, here's a great article. .. http://doccarnahan. Blogspot. Com/2013/10/whats-big-deal-about-methylation-update. Html. ...Read more
I am hetero for the mthfr genetic mutation c677t. Everything I've read says I should be gluten/folic acid/dairy free. Advice regarding this mutation?
I can't agree: ~1 person in 4 is like you. The pathology community is divided over MTHFR testing. I'm undecided. A majority of people who take the test will be told they have an 'abnormal' result and are therefore in need of special supplements which they may then be offered by the folks who have done the test. Talk with your own physician and if necessary an authentic genetic counsellor. ...Read more
With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter, DNA mutation (mthfr, a1at. ..) methylation etc.
Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more
MTHFR mutation: The genetic finding can possibly increase clotting problems. The mthfr protein is responsible for metabolism of homocysteine. High homocysteine levels can aggravate vessel walls causing a higher risk of clotting. The high homocysteine levels can be treated with folate (folic acid) supplementation, which should decrease the risk. ...Read more
If I am compound heterozygous for the mthfr gene, what kind of treatment will I receive when trying to conceive? I've had one stillborn son.
CONTROVERSY: Some rei drs recommend anticoagulation therapy anywhere from a baby Aspirin daily tpo Lovenox (enoxaparin) or Heparin injection until you deliver. Also, if you are mthfr deficient, taking l-methylfolate supplements (deplin) may be very helpful in decreasing depression and post-partum blues. ...Read more
I have the MTHFR gene. Is it safe to take the Methyl CpG supplement? Which vitamins should I avoid? It has 2, 000mcg of folate, in the M.CpG Is it safe
Go ahead: This gene testing is being promoted by a lab to liability-wary physicians. The majority of folks tested are told they have an abnormal gene and that they should take these folks' supplements. Most of us pathologists think it's subscientific at best, though there's some interesting stuff. Health doesn't come out of a pill bottle and I hope you're eating sensibly and exercising. Best wishes. ...Read more
Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase. Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more
No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more
Information's handy: There are plenty of evidence-based sites dealing with the BRCA genes and their mutations. Don't chase down a particular interview. The science is well-established. Be discerning and get with your physician if you feel you need to be tested. ...Read more
Please I need help...i want to know the cost of brca gene mutation? And does the test found in all the countaries
Variably expensive: These are very expensive tests and they are not necessary or indicated unless you have a close family history of breast cancer. Even then, having the mutation does not mean that you will definitely have cancer. Better to do annual mammograms and self exams. The tests are available in the US and many other countries but not everywhere and may cost US$2000-4000 ...Read more
Read about a LPR5 gene mutation family in science magazine, does new drug LP33401 increase bone width too or juz BMD in the mice experiment?
Interesting question: When I searched for lp40331, I found it to be the part no. For a John Deere T-shirt. The leprosy susceptibility genetic loci are fascinating, however. Armauer Hanson discovered Mycobacterium leprae in Bergen, Norway in 1873. Genetic susceptibility to leprosy was long suspected by epidemiologists, and now confirmed, explaining why many family or tribe members are resistant. See OMIM. Org %609888 ...Read more
Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more
A gain of function mutation of the prothrombin gene results in higher levels of prothrombin, a clotting factor, and predisposes the person to forming clots in blood vessels. You may consult this site for more info: https://www. Healthcare. Uiowa. Edu/labs/lentz/Information_For_Patients/PDF/Prothrombin%20Gene%20Mutation%20Brochure. Pdf
For good health - Have a diet rich in fresh vegetables, fruits, whole grains, milk and milk products, nuts, beans, legumes, lentils and small amounts of lean meats. Avoid saturated fats. Drink enough water daily, so that your urine is mostly colorless. Exercise at least 150 minutes/week and increase the intensity of exercise gradually. Do not use tobacco, alcohol, weed or street drugs in any form.
Practice safe sex, if you have sex. ...Read more
Size: Chromosomes are the large packages containing the genes, usually changes in the genes are called mutations and changes in the chromosomes are copy number variations or changes involving gain or loss of chromosome material ...Read more
What is a prothrombin gene mutation? It is something worth worrying about whether you have it or not?
PGM: Prothrombin gene mutation is an inherited coagulopathy. This means that if you have this gene mutation, you can be at increased risk of forming clots in certain veins in your body. These clots can be dangerous and even lead to death. We do not routinely check for this mutation but do order this test if a young patient develops a deep blood clot. ...Read more
Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?
No: Gene mutations are still being researched and from my opinion, I don't think we're even close to scratching the surface of the miraculous human genome. That being said, mutations are a normal part of our evolution. Is therea reason you're concerned? If we know, you will likely get an answer sooner. ...Read more
I have erythromelalgia. I've had every test except gene mutation and all were normal. Just curious if its likely that I have Poly vera I'm 18 yr male.
Unlikely: While PV can occur at any age, the median age on diagnosis is around 70 years. Nonetheless, you should be carefully followed by your physician. ...Read more
I have prothrombin gene mutation g20210a, I'm pretty sure I follow under a vitamin defect. Is their anything I can do?
Prothrombin G20210A: Prothrombin is the precursor of thrombin in the coagulation pathway; it is synthesized in the liver, much as other vitamin k – dependent proteins are. The prothrombin gene is found at 11p11-q12) on chromosome 11. mutation at position 20210 of the gene results in thrombophilia. This coagulopathy is more likely to cause venous thrombosis rather than arterial disease. Is not related to a vitamin deficit. Coumadin (warfarin) is the treatment of choice. You seem to be in the hands of a good hematologist. I am truly sorry to hear about your stroke. I can understand your concerns as I also suffer from three clotting factor disorders and am on coumadin (warfarin). Best wishes for a happy and healthy new year. ...Read more
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more