Posted by Kristal Louie on Fri, Jan 08, 2010 @ 08:54 PM
Spina Bifida, What does it have to do with MTHFR?
MTHFR stands for 5,10-methylenetetrahydrofolate reductase. For some of you those words are familiar because you have been told that you have one or two changes in that gene. For others, you have heard of the MTHFR gene but it is probably as foreign as a different language. Hopefully after reading this blog you will be a little more comfortable with the term and how it relates to Spina Bifida.
First some background information. The term "folate" is the natural Vitamin B9 found in one's diet and "folic acid" is the form of B9 that is found in supplements. Above is a diagram of how folic acid and folate are important to daily maintenance of your body, and therefore to a growing baby as well. Notice that folic acid and dietary folate enter the cycle at different points. Vitamin B9 is required for nucleotide biosynthesis and methylation of proteins, DNA and lipids. Nucleotide biosynthesis essentially means maintaining your genetic code in good condition by replacing damaged parts of your genetic code with new pieces. Methylation of proteins (building blocks for your body and machinery of your body), DNA (your genetic code) and lipids (fats) essentially means creating signals for how your body should work.
Looking at the diagram you can see that folic acid is converted into tetrahydrofolate (THF). THF is then converted into 5,10-methylenetetrahydrofolate (5,10-MTHF). MTHFR is the enzyme that changes 5,10-MTHF into 5-methyltetrahydrofolate (5-MTHF). As you can see MTHFR is only ONE of the many, many, many enzymes involved with Vitamin B9 metabolism. The enzymes I've shown in the diagram are only a handful of the enzymes involved in complete Vitamin B9 cycle and changes in any one of them may have an effect on Vitamin B9 metabolism.
Sometimes changes to the MTHFR gene can result in an inability to convert 5,10-MTHF into 5-MTHF. 5-MTHF helps convert homocysteine into methionine. Without 5-MTHF, an increase in homocysteine may occur. In some people, a build-up of homocysteine has health consequences such as vascular disease ( coronary artery disease, peripheral artery disease, arteriosclerosis, deep vein thrombosis, placental abruption leading to miscarriage). Theoretically changes in the MTHFR gene that cause increases in homocysteine may result in the above health risks.
HOWEVER often changes to the MTHFR gene do not result in health consequences. If you remember, dietary folate can be converted into 5-MTHF. That allows the cycle to continue by aiding the conversion of homocysteine to methionine. Changes in the MTHFR gene that do not result in increased homocysteine (due to dietary folate being converted into 5-methyltetrahhydrofolate) are not expected to increase health risks. However if a person cannot convert either dietary folate into 5-MTHF or folic acid to 5-MTHF, there could be an increase in homocysteine.
Currently changes in the MTHFR gene do not appear to have a strong association with an increased risk to have a child with Spina Bifida. Researchers have had a difficult time showing a strong association of Spina Bifida to a single gene like MTHFR. The researchers of the SB Genetics Research Project believe that it is likely several changes in not one, but many genes involved with Vitamin B9 metabolism that result in an increased risk to have a child with Spina Bifida. That is why we wish to include those women who have a change in the MTHFR gene and believe they know why they might have had a child with Spina Bifida. Hopefully, the topic of MTHFR and how it relates to Spina Bifida is a little clearer. The irony in that statement is that only looking at MTHFR will not make the understanding of the genetics of Spina Bifida clear.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Mon, Nov 30, 2009 @ 05:30 PM
What do I have to do to participate? Spit !
The best thing about this study is ..... NO NEEDLES! All we need you to do is spit. Hopefully your son or daughter will spit for us too. All in the comfort of your own home, you can do it in front of the TV with your feet up on the recliner, or at the kitchen table, anywhere you want. Don't worry a bit if your son or daughter can't spit, we have a special cheek swab kit just for that situation. Sometimes rubbing the outside of the cheeks or thinking of a warm bowl of macaroni and cheese helps! Please contact us for other tips !
Quoted with her permission, one of our participants said "happy to participate and the process was extremely easy."
I remember my mom telling me it isn't nice to spit, however this is one situation where we really want you to spit and so do 400 HUNDRED other participants who have already spit for this great cause. Please consider enrolling if you have not already. http://www.sbgenetics.org/
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Thu, Nov 26, 2009 @ 02:37 PM
Why is it that some women nibble at warm flaky croissants without gaining a pound while most of us eat low fat/sugar-high fiber muffins and work out for hours? Why are we different? Well, the myth is that we have differences in our metabolism, different genetics. Unfortunately when it comes to weight gain, most of the time it isn't genetic, it is probably related to how much we eat as explained in this BBC article. Many low fat/sugar muffins contain more calories than a small croissant. It is very unfortunate that I can't blame my hips on my genetics.
HOWEVER when it comes to Spina Bifida, it is NO MYTH that genetics and metabolism play roles. Preliminary data on folic acid metabolism has shown that some of our bodies use the vitamin differently, less efficiently. These differences may affect the likelihood of having a baby with Spina Bifida. These differences in the way our bodies use folic acid are due to differences in our genes. Currently the exact mechanisms of how folic acid affects the risk of Spina Bifida are unknown. However it is widely known in the research community that folic acid can reduce the risk of Spina Bifida up to 75% when consumed 3 months prior to pregnancy and during the first month of pregnancy.
With the help of all the participants we hope to confirm the preliminary data which showed that tiny changes to our genes can affect the way our bodies use folic acid and therefore increase the risk of having a baby with Spina Bifida. We are going to look at over 400 segments of the genetic code for these tiny changes. Hopefully we will be able to identify those women from the analysis that do not use folic acid as efficiently as others. But the upside to knowing this is that once these women are identified, they can overcome their genetics simply by increasing their folic acid consumption. Too bad it isn't that simple to lose weight!
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Fri, Nov 06, 2009 @ 12:36 AM
Hello !
We are among the first researchers to study the unique theory that tiny changes to our folic acid genes might impact us in a significant way by increasing the risk of having a child with Spina Bifida. Our hope is that with the help of all the participants we will find a way to prevent Spina Bifida.
Our group includes researchers from Children's Hospital of Oakland, the University of California Berkley, Stanford University, and the University of California San Francisco. The preliminary research has shown that some of us may not metabolize folic acid as efficiently as others. That means that the standard recommendation of 0.4 milligrams may not be enough. Some of us may need to take at least 4 milligrams (a ten-fold increase from the RDA) to compensate. The unfortunate thing is that currently there are no pre-conception tests to determine if you or I might be one of these women. With the help of mothers and children with Spina Bifida we hope to find a way to provide women with this information before they become pregnant, when they can do something about it.
We want to thank all the mothers and children who have already participated. We would love it if we could get even more mothers and their children to participate as the more data we have, the stronger our results will be. So if you have already participated a BIG THANK YOU !!! If you have not, please consider participating. Help us by telling your friends about the study or send them a link to the website. We need your help!
Kristal
P.S. Please feel free to post any comments you have !
http://www.sbgenetics.org/
support@sbgenetics.org
www.sbgenetics.org
support@sbgenetics.org