MTHFR
Yep, looks like a dirty abbreviation. Might have grabbed your attention quickly.
So what is MTHFR?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also called folic acid or vitamin B9) (Source: http://ghr.nlm.nih.gov/gene/MTHFR).
The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.To put it very simply, MTHFR most often refers to a genetic mutation that inhibits the body's ability to methylate or convert folic acid from the food we eat into Methylfolate (L-MTHF).
I have heard of the MTHFR gene mutation through my support groups and always wondered if it played a role in Hunter's difficulties. So we submitted his saliva for the 23 and Me Testing to look at his genes. If you are familiar with 23 and Me, it is a great, inexpensive way to determine your ancestry, gene pool, and health risks. In November, the FDA decided to enforce regulations that no longer allowed them to share medical data (it comes from a pool of consumers). We were fortunate to send it in prior to this decision, so we received his information a few weeks ago.
Now I may have taken many difficult, masters-level science courses...but studying Hunter's gene make-up was enough to drive me crazy. I couldn't read it! I couldn't decipher the code...but one night, after sending it through another site that analyzes it and still unable to understand, I found another section that contained specific gene information.
Here is what I found:
MTHFR mutations that cause difficulties are located on the following SNPs:
C677T- Risk Letter A; Hunter has GG, so we were in the clear.
A1298C- Risk Letter G;
Hunter has GT.
He has a heterogenous mutation on the A1298C SNP.
I couldn't believe my eyes. Now typically, in what I have read, a single copy of the A1298C MTHFR doesn't appear to be harmful, and the C677T seems to be more common of a mutation...but what if you have an autoimmune reaction that kicks a system into overdrive?
I have read in the past about the possible link between MTHFR and Autism...here is a brief portion of a study that was completed...
May 31, 2011 (Denver, Colorado) — A new study has documented the presence of a polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) — essential for the metabolism of vitamin B9 (folate) — which almost doubles the chance of autism spectrum disorder (ASD). The data provide further genetic evidence for a link between folate and autism.
Daniel Schulteis, MD, from Nationwide Children's Hospital in Columbus, Ohio, presented the study results here at the Pediatric Academic Societies and Asian Society for Pediatric Research 2011 Annual Meeting.
Although autism is generally regarded as having a genetic basis with environmental triggering factors, the details have yet to be completely defined, and no single theory has prevailed, Dr. Schulteis noted. Dietary supplementation with folate has been anecdotally liked to the improvement of symptoms of ASD, "despite a lack of medical evidence and endorsement," Dr. Schulteis told Medscape Medical News....
...Indeed, a converse link between autism and excess folate has been suggested. Genetic evidence for a folate connection with autism was first reported in a study of 168 autistic children that chronicled the doubled prevalence of MTHFR polymorphisms in those with autism, compared with those in the control group (J Am Phys Surg. 2004;9[4]:106-108).
The prevalence of ASD in those with MTHFR polymorphisms was 1.7 times greater than it was in the control population.
"This study was small but was statistically significant, implying that larger studies will most likely show a stronger association between the presence of MTHFR C677T and autism. These studies need to be done now," he added.
http://www.medscape.com/viewarticle/743620
We need to re-examine his folate intake and his inability to correctly metabolize it.
Excess folate can also affect dopamine in the brain, which in turn can affect executive functioning, attention, etc.
Science is amazing;
yet at the same time, so incredibly frustrating. I was able to find the mutation just from a simple $99 test, a few hours of googling and networking with my PANDAS moms, and boom...another piece of the puzzle.
So why can't the researchers who do this forty-plus hours/ week with funding figure out how to recover my son?
MTHFR.
So what is MTHFR?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also called folic acid or vitamin B9) (Source: http://ghr.nlm.nih.gov/gene/MTHFR).
The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.To put it very simply, MTHFR most often refers to a genetic mutation that inhibits the body's ability to methylate or convert folic acid from the food we eat into Methylfolate (L-MTHF).
I have heard of the MTHFR gene mutation through my support groups and always wondered if it played a role in Hunter's difficulties. So we submitted his saliva for the 23 and Me Testing to look at his genes. If you are familiar with 23 and Me, it is a great, inexpensive way to determine your ancestry, gene pool, and health risks. In November, the FDA decided to enforce regulations that no longer allowed them to share medical data (it comes from a pool of consumers). We were fortunate to send it in prior to this decision, so we received his information a few weeks ago.
Now I may have taken many difficult, masters-level science courses...but studying Hunter's gene make-up was enough to drive me crazy. I couldn't read it! I couldn't decipher the code...but one night, after sending it through another site that analyzes it and still unable to understand, I found another section that contained specific gene information.
Here is what I found:
MTHFR mutations that cause difficulties are located on the following SNPs:
C677T- Risk Letter A; Hunter has GG, so we were in the clear.
A1298C- Risk Letter G;
Hunter has GT.
He has a heterogenous mutation on the A1298C SNP.
I couldn't believe my eyes. Now typically, in what I have read, a single copy of the A1298C MTHFR doesn't appear to be harmful, and the C677T seems to be more common of a mutation...but what if you have an autoimmune reaction that kicks a system into overdrive?
I have read in the past about the possible link between MTHFR and Autism...here is a brief portion of a study that was completed...
May 31, 2011 (Denver, Colorado) — A new study has documented the presence of a polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) — essential for the metabolism of vitamin B9 (folate) — which almost doubles the chance of autism spectrum disorder (ASD). The data provide further genetic evidence for a link between folate and autism.
Daniel Schulteis, MD, from Nationwide Children's Hospital in Columbus, Ohio, presented the study results here at the Pediatric Academic Societies and Asian Society for Pediatric Research 2011 Annual Meeting.
Although autism is generally regarded as having a genetic basis with environmental triggering factors, the details have yet to be completely defined, and no single theory has prevailed, Dr. Schulteis noted. Dietary supplementation with folate has been anecdotally liked to the improvement of symptoms of ASD, "despite a lack of medical evidence and endorsement," Dr. Schulteis told Medscape Medical News....
...Indeed, a converse link between autism and excess folate has been suggested. Genetic evidence for a folate connection with autism was first reported in a study of 168 autistic children that chronicled the doubled prevalence of MTHFR polymorphisms in those with autism, compared with those in the control group (J Am Phys Surg. 2004;9[4]:106-108).
The prevalence of ASD in those with MTHFR polymorphisms was 1.7 times greater than it was in the control population.
"This study was small but was statistically significant, implying that larger studies will most likely show a stronger association between the presence of MTHFR C677T and autism. These studies need to be done now," he added.
http://www.medscape.com/viewarticle/743620
We need to re-examine his folate intake and his inability to correctly metabolize it.
Excess folate can also affect dopamine in the brain, which in turn can affect executive functioning, attention, etc.
Science is amazing;
yet at the same time, so incredibly frustrating. I was able to find the mutation just from a simple $99 test, a few hours of googling and networking with my PANDAS moms, and boom...another piece of the puzzle.
So why can't the researchers who do this forty-plus hours/ week with funding figure out how to recover my son?
MTHFR.
we have been fighting this terrible disease of pandas for about 6 years we just did the 23 and me test and found our son has the MTHFR mutation please let us know what you have done with your son this as you know is an exhausting battle we desperately are seeking answers, God bless you
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