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Know your genes. Know yourself.

Folate metabolism genetic testing QUICK FACTS


Even when you eat a healthy, balanced diet and take supplements, its still possible for your body to be deficient in certain nutrients. Thats partly because our genes can affect how our body metabolises or breaks down nutrients. Having certain variations on the MTHFR gene can affect the way your body metabolises folate. People who dont metabolise folate as well as others have an increased risk of many health problems. A simple genetic test can help you understand more about how well your body metabolises folate and what this means for your health.

THE RECOMMENDED DAILY INTAKE FOR FOLATE IS 400 MICROGRAMS PER DAY

400g

What is folate and why is folate metabolism important?


Folate is one of the B-group vitamins and is an essential nutrient that your body needs to maintain good health. It is used for a range of functions including making and repairing DNA and producing healthy red blood cells. However it is probably best known for its role in helping to prevent neural tube defects such as spina bifida in unborn babies. Folate is the name given to the natural food form of this vitamin. Folic acid is the name given to the form of this vitamin used in supplements and in fortified foods. For folate to perform its important functions in the body, it must first be absorbed into the bloodstream. Your body produces the MTHFR enzyme to convert folate from the foods or supplements you eat into a form that can be readily absorbed into the bloodstream. This converted form of folate found in the blood is called serum folate. Your level of serum folate depends not only on how much folate you consume, but also on your bodys ability to convertor metabolisedietary folate to serum folate. People who dont metabolise folate efficiently have low serum folate levels and an increased risk of heart and blood vessel disease, neural tube defects in unborn babies and other health problems.

THIS MAY SOUND SMALL, BUT IT IS SURPRISINGLY HARD TO GET THROUGH THE FOOD WE EAT. 400 MICROGRAMS IS EQUIVALENT TO EATING APPROX:

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A GENETIC TEST CAN HELP YOU ADJUST YOUR DAILY FOOD INTAKE TO ENSURE YOUR BODY IS RECEIVING ENOUGH FOLATE EACH DAY.
becomes the spinal cord, spine and brain as the baby develops. The neural tube is formed within the first six weeks of pregnancy often before the mother even knows she is pregnant. That is why it is important for you to start taking additional folate if you are planning to become pregnant; dont wait until you are pregnant. Inadequate folate in the mothers dietor poor folate metabolism can lead to problems associated with the neural tube, such as spina bifida, paralysis in the legs and bladder or bowel problems. How much folate you need and the best form to take will depend on your genes and your medical history. Your healthcare professional can advise you on your individual needs.

Folate and pregnancy


Folate is essential for the development of healthy babies particularly in the very early stages of pregnancy. If you are planning a pregnancy or you are in the very early stages of pregnancy, you will need additional folate. Folate is needed for the development of the neural tube, which

Genes and folate metabolism


Your body produces the MTHFR enzyme to convert folate into serum folate and so it can be absorbed into your system. The MTHFR gene provides instructions for your body to make the MTHFR enzyme. Some people have variations in the MTHFR gene that cause the MTHFR enzyme to work less efficiently. For these people, their ability to metabolise folate can be reduced by up to 70 per cent.
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Folate metabolism genetic testing

People with one of these gene variations, have an increased risk of certain health problems; this risk is even greater if they also dont get much folate through their diet.

What will the results tell me?


Your results will tell you if you have variations in the MTHFR gene and whether this means you have low or normal folate metabolism. Your healthcare professional will explain what this result means. The combination of your genetic test result and your overall risk of certain health problems or plans for pregnancy will affect your folate needs. Your healthcare professional will advise whether you will be able to get enough folate through your diet or whether you need to take a supplement. If you have the MTHFR variant associated with low folate metabolism, your healthcare professional will work closely with you to ensure you receive enough folate.

Homocysteine and folate metabolism


Inadequate folate intake leads to decreased serum folate levels. This decrease in serum folate leads to high homocysteine levels. Low levels of homcysteine in the body are good for health, however high levels may lead to an increased risk of health problems. High homocysteine levels can be reduced with increased folate and folic acid supplements. It is important to speak with your healthcare professional for recommendations on folate intake. Reduced activity of the MTHFR enzyme can cause an increase in homocysteine levels.

Why have a genetic test and what does it involve?


The results from genetic testing, combined with your other health information, help you and your healthcare professional work towards living a healthier life. Information from a genetic test can allow your healthcare professional to make personalised recommendations to improve your health. A genetic test involves rubbing the inside of your mouth with a swab to collect cheek cells that contain your DNAthe genetic material that you inherited from both your parents and makes you an individual. Your DNA is then tested in a laboratory to look for certain genes or variations in specific genes that may influence your health. The results are sent back to your healthcare professional to discuss with you and so together you can work on strategies to improve your future health.

Who should have a genetic test for folate metabolism?


Whether or not you have good folate absorption affects many different areas of your health. Therefore, having a genetic test for folate metabolism may be especially helpful for many people including: Women who are planning or in the early stages of pregnancy. People with a personal or family history of heart or blood vessel disease. People with a history of anaemia. Anyone who is interested in maintaining good health and preventing future health problems associated with low folate metabolism such as type 2 diabetes, obesity and mood disorders. Having a simple genetic test is the only way of knowing if you have a variation in the MTHFR gene that can result in low serum folate. Although a blood test can give you a snapshot of your folate levels at a particular point in time, it cant tell you about your bodys ongoing genetic ability to metabolise folate so you can keep your serum folate at a healthy level all the time.

What should I do next?


If you want to live a healthier life and help prevent health problems from developing in the future, having a folate metabolism genetic test may help you. To order a test, speak with you local healthcare professional or visit www.mygene.com.au for more information.

Who is MyGene?
MyGene is an Australian-owned and run company that offers genetic testing to individuals through healthcare professionals. A team of experts including geneticists, pharmacists, dietitians, medical specialists and other healthcare professionals develops MyGenes genetic tests and products. MyGene has its own laboratory located in Melbourne, Victoria. Your genetic samples are analysed in this laboratory and then a report is delivered back to your healthcare professional to discuss with you, helping you to make preventative healthcare choices.

Suite 3, Level 2, 199 Toorak Road, South Yarra VIC 3141 1300 MyGene (1300 694 363) ABN: 69784514295

www.mygene.com.au
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