Posted by Bruce Cohen on Thu, Mar 11, 2010 @ 11:23 AM
We began our groundbreaking study with high hopes of doing something never done before – recruit 1,000 women and their children who have Spina Bifida, to participate in a worldwide effort to understand the genetics of folate metabolism and the risks of Spina Bifida. When we started, we weren’t sure how long it would take, or how hard it would be.
Thanks to a truly extraordinary effort from people in 47 states and 17 countries and with the enthusiastic support of the Spina Bifida community, we’re delighted to let you know that we are nearly there. More than 1,000 women have signed up on our secure web site and more than 700 women and their children have completed the enrollment process by sending in saliva samples with consent forms. That is amazing.
Many have asked when we will complete the study. Some participants mail back their saliva kits after a few days, and others take several weeks. Recently we received a sample sent out 5 months ago! Regardless of how long it takes, we are grateful that the kits are sent in. We are very proud of all the hard work done because we understand how busy everyone is, and we can see the finish line just ahead. However we’re not done until we have 1,000 consented samples. Because we cannot predict how many participants will complete the process and how long everyone will take, we are continuing to enroll new participants and send reminders (we hope not too many!).
Once we have reached our ambitious goal, full analysis of the data should take about two months. Then the results will be submitted to a scientific journal for peer review. In another blog we’ll talk about the analysis and how studies like this are reviewed by experts before the results are published. The publication process can be frustrating for participants because we are not allowed to discuss the results during the reveiw period. We hope everyone understands that scientific research takes time, and with something as important as this, it’s essential that our work is done carefully and consistent with high quality medical research.
So, if you’ve done the survey on the web site, but haven’t had a minute to send in your kits, please do so as soon as you can. If you have any questions, or need a swab kit, don’t hesitate to contact us at 1.866.575.0110 or support@sbgenetics.org.
Most importantly, a big and heartfelt THANK YOU to everyone who has taken us this far.
www.sbgenetics.org
support@sbgenetics.org
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 Wed, Jan 06, 2010 @ 04:38 PM
Folic Acid: The World's Healthiest Food
New York Times columnist and Pulitzer Prize winner Nicholas Kristof was recently in Honduras and what he saw there is the subject of his most recent column in the January 3 edition of the Times. His experiences there compelled him to inform his readers about the wonders of folic acid. Mr. Kristof met three babies with various forms of Spina Bifida. It is an uphill battle for those of us in healthcare to inform the general public about the need for adequate folic acid prior to conception. Props to Mr. Kristof!
Mr. Kristof describes folic acid as a "miracle substance" and how there is "scarcely a form of foreign aid more cost-effective than getting [it] into the food supply." We couldn't agree more. He highlights the work of Project Healthy Children, an aid organization that fights vitamin deficiencies in Honduras and other poor countries. Mr. Kristof also discusses other micronutrients (vitamins and minerals) that are likely lacking from many diets in Third World countries like Honduras and even from the diets in developed countries.
One aspect Mr. Kristof did not discuss is the role of genetics. It's likely that our genetics play a large role in how our bodies use folic acid and, therefore, also the risk of having a baby affected by SB. Trying to ensure that the general public consumes enough folic acid by fortifying foods is a great step. Following the CDC guidelines of 0.4 milligrams daily beginning three months prior to pregnancy is a second great step. However, our research suggests that 0.4 milligrams might not be enough for some women. These women, due to tiny changes in their genetics, may require more than 0.4 milligrams - and may not even know it. For them, diet alone isn't going to cut it. Consuming supplements with the folic acid dose increased to 4 milligrams is required. Currently the larger doses of folic acid are typically prescribed by a physician only if you have a family history of SB. However, for some women, their genetics will determine that they very well may require 4 milligrams, even without a history of SB. With our research, we hope to develop a genetic test which can identify women without any family history who need the 4 milligram dose of folic acid.
We applaud Mr. Kristof for bringing this critical issue to millions of people. We would just like to remind everyone that in the case of preventing Spina Bifida and related birth defects, it's very likely that one size doesn't fit all.
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 Thu, Nov 19, 2009 @ 10:20 AM
Again and again I hear from mothers that they know that they are not at fault. However sometimes I sense a flash of doubt coming through as they wonder if they are at fault somehow. Even if you have heard it a thousand and one times from your best friend, your partner, or your doctor, sometimes you just need to hear it one more time. It wasn't your fault. You are not to blame. Nobody, especially you, should carry that heavy burden of blame.
Some women did not know to take folic acid 3 months prior to getting pregnant and they had a baby with spina bifida. Was that you? Even though you might not have known to take folic acid, it still doesn't make it your fault. You are not to blame. Some women were told to take folic acid 3 months prior to getting pregnant but they still had a baby with spina bifida. Was that you? Are you wondering if there was something else that you were supposed to do?
The bottom line is that regardless of what you did or did not do, you never wanted to harm your baby. That is the MOST important thing to remember. You must remember in those brief moments of self doubt when you start to wonder if you are at fault, at blame, that you DID NOT want to wish any harm. YOU are NOT at fault, NOT to blame. That burden is NOT for you to carry.
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