MTHFR Gene Mutation: A Guide For Testing NZ
With MTHFR gene mutations affecting 20 to 40% of white and Hispanic people in the United States, this genetic variant stands as one of the most common encountered. MTHFR determines how our bodies process folate, which we need for DNA synthesis and homocysteine breakdown.
Your MTHFR status provides valuable knowledge for individualized health management. This article explores MTHFR mutations' impact on your health, their symptoms and testing procedures, that help you make informed decisions about your genetic health.
Your MTHFR status provides valuable knowledge for individualized health management. This article explores MTHFR mutations' impact on your health, their symptoms and testing procedures, that help you make informed decisions about your genetic health.
What are MTHFR Gene Mutations
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What exactly happens in an MTHFR mutation?
DNA sequences can change, and that's when a mutation occurs. Everyone gets two copies of the MTHFR gene from their parents. Here are the two most common MTHFR gene variants:
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There is an alternative reporting system for MTHFR677. In this system CC = GG, and TT=AA.
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These mutations can change how well your body processes folate and breaks down homocysteine.
Different populations show varying rates of these mutations. About 10 of Australians have two copies of the C677T mutation. The A1298C polymorphism shows up in about 25% of people worldwide.
These genetic changes can affect many important body functions. They influence how your body handles folate, which affects DNA protection, neurotransmitter synthesis, hormone regulation, and detoxification processes. People with reduced MTHFR enzyme activity might have lower blood folate levels. Those with the MTHFR 677 TT (or AA) genotype usually have blood folate levels 16% lower than people with the CC genotype.
Different populations show varying rates of these mutations. About 10 of Australians have two copies of the C677T mutation. The A1298C polymorphism shows up in about 25% of people worldwide.
These genetic changes can affect many important body functions. They influence how your body handles folate, which affects DNA protection, neurotransmitter synthesis, hormone regulation, and detoxification processes. People with reduced MTHFR enzyme activity might have lower blood folate levels. Those with the MTHFR 677 TT (or AA) genotype usually have blood folate levels 16% lower than people with the CC genotype.
Symptoms of MTHFR Gene Mutation
People who have MTHFR gene mutations rarely show any symptoms. In spite of that, these genetic variations might affect your health, especially when you have mutations in both copies of your MTHFR gene. Research has also shown an association between MTHFR mutations, and several health concerns.
The biggest problem with MTHFR mutations lies in raised homocysteine levels in the blood. Blood vessels can suffer damage from high homocysteine, which might cause blood clots. Your risk for certain health conditions could increase, although scientists need more research to understand these relationships better.
Physical symptoms that might appear with MTHFR mutations include:
· Cardiovascular problems including abnormal blood clotting
· Neurological problems such as developmental delays and seizures
· Eye disorders like glaucoma
· Pregnancy complications
· Recurrent miscarriages
· Fatigue and muscle weakness
· Numbness or tingling in extremities
Research has connected MTHFR gene variants to several mental health conditions. Studies show the C677T polymorphism's link to depression, bipolar disorder, schizophrenia, and ADHD. This connection may be because folate helps create serotonin, dopamine, and norepinephrine—chemicals that control mood, cognition, and memory.
Remember that having an MTHFR variant doesn't guarantee health problems. Crucially what it will tell you, is whether this is an area that has the potential to cause health problems. With this information, you can alter your diet, lifestyle and possibly your supplements in order to stay well. If you are at the higher end of compromise in this cycle, we may recommend you have your homocysteine level checked with a blood test.
The biggest problem with MTHFR mutations lies in raised homocysteine levels in the blood. Blood vessels can suffer damage from high homocysteine, which might cause blood clots. Your risk for certain health conditions could increase, although scientists need more research to understand these relationships better.
Physical symptoms that might appear with MTHFR mutations include:
· Cardiovascular problems including abnormal blood clotting
· Neurological problems such as developmental delays and seizures
· Eye disorders like glaucoma
· Pregnancy complications
· Recurrent miscarriages
· Fatigue and muscle weakness
· Numbness or tingling in extremities
Research has connected MTHFR gene variants to several mental health conditions. Studies show the C677T polymorphism's link to depression, bipolar disorder, schizophrenia, and ADHD. This connection may be because folate helps create serotonin, dopamine, and norepinephrine—chemicals that control mood, cognition, and memory.
Remember that having an MTHFR variant doesn't guarantee health problems. Crucially what it will tell you, is whether this is an area that has the potential to cause health problems. With this information, you can alter your diet, lifestyle and possibly your supplements in order to stay well. If you are at the higher end of compromise in this cycle, we may recommend you have your homocysteine level checked with a blood test.
How is MTHFR Tested
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MTHFR gene mutation testing has become available over the last several years, and you can now learn about your genetic makeup easily.
Saliva Based Testing: At home saliva test kits provide a sterile cotton swab for you to obtain a sample from your cheek’s inner surface. What Happens in the Lab: Laboratory technicians extract DNA from your sample and analyze specific genetic information, including MTHFR. The closest labs that test the full genetic profile are in Australia, and you will get your results within 3-4 weeks after sending it away. Understanding Test Results: Your test results show: · Whether you're positive or negative for MTHFR gene variants · If positive, you have one variant (heterozygous) or two variants (homozygous) · Which specific variants you carry (C677T, A1298C, or both) |
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SmartGENES MTHFR Gene Mutation Testing NZ
SmartGENES goes beyond simple MTHFR mutation testing, and instead recommends testing that looks at the entire methylation cycle. This is because there are many genes other than MTHFR that can impact this cycle. Our approach gives a deeper look at how your body handles folate and other key nutrients including B12, and how the methylation cycle works as a whole.
"While our genetics cannot be changed, how they are expressed can be altered.
This is the point of genetic testing, to know our weaknesses and be able to modify them
with diet, lifestyle and appropriate supplementation if necessary."
This is the point of genetic testing, to know our weaknesses and be able to modify them
with diet, lifestyle and appropriate supplementation if necessary."
Your SmartGENES results should arrive 21-24 business days after the lab gets your sample. The myDNA Comprehensive Health Report we recommend, checks two common MTHFR variants - C677T and A1298C. People who have two copies of the C677T mutation keep only about 30% of normal enzyme function, while those with two A1298C copies maintain around 70%.
Alongside your results, your myDNA health report will provide you information on each of the variants found as well as how to improve methylation through specific nutrition, supplements, and lifestyle changes. However, methylation is a little difficult to understand due to the complexity of the cycle and the number of SNP’s involved. So, we do offer a one hour consultation to go over your test results together. This is to help you fully understand whether methylation is a potential issue or not, and what to do about it. There is also time to go over the other aspects of the report to highlight the main SNP's to be aware of.
Methylation testing is a valuable tool for preventative healthcare in New Zealand. It helps you to understand your genetic weaknesses before they show up as health problems.
Vanessa Winter
Naturopath & Medical Herbalist
BHSc (Deans Award for Academic Excellence), BED, Adv.Dip.Nat., Adv.Dip.Herb.Med., NMHNZ
Registered with Naturopaths and Medical Herbalists of NZ (NMHNZ)
Naturopath & Medical Herbalist
BHSc (Deans Award for Academic Excellence), BED, Adv.Dip.Nat., Adv.Dip.Herb.Med., NMHNZ
Registered with Naturopaths and Medical Herbalists of NZ (NMHNZ)
References
https://www.rupahealth.com/post/functional-folate-advanced-testing-for-mthfr-and-methylation-pathways
https://www.cdc.gov/folic-acid/dataresearch/mthfr/index.html
https://pathologytestsexplained.org.au/ptests-pro.php?q=MTHFR+mutation
https://www.medicalnewstoday.com/articles/326181
https://medlineplus.gov/lab-tests/mthfr-mutation-test/
https://www.rupahealth.com/post/functional-folate-advanced-testing-for-mthfr-and-methylation-pathways
https://www.cdc.gov/folic-acid/dataresearch/mthfr/index.html
https://pathologytestsexplained.org.au/ptests-pro.php?q=MTHFR+mutation
https://www.medicalnewstoday.com/articles/326181
https://medlineplus.gov/lab-tests/mthfr-mutation-test/
About Our DNA Testing
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