Tag: genetic defect

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Glycine, Cheerful Juice, and testing for glyphosate

My experiences with taking a larger dose of the free amino acids glycine and methionine proved to my satisfaction that they are indeed essential for physical and mental health. In definition methionine is considered essential, we can not synthesize it and need an external source while glycine is considered nonessential, we can make it from other chemicals. For someone who can’t properly breakdown either though they might both be considered essential for health. It has been helping my mood and health.

I’ve continued to take the amino acids in a half teaspoon dose since the evening I took the full teaspoon dose late at night and couldn’t get to sleep. Essential nutrients can often have ranges for how much is helpful; too little or too much of many things can cause different types of symptoms. The taste isn’t better but I’ve (almost) acquired the taste for it — the astringent tang of a Pinot Noir was the closest taste I could think of —  which does turn out to contain free amino acids, including methionine and glycine. [http://skipthepie.org/beverages/alcoholic-beverage-wine-table-red-merlot/compared-to/alcoholic-beverage-wine-table-red-pinot-noir/#proteins]

Probably a few people can relate to the idea of red wine being a “Cheerful Juice,” it turns out that the free amino acids may have something to do with it.

What I did find is that having a genetic defect in the metabolic pathway of an essential amino acid such as glycine can have significant negative effects on mood and energy level and that simply adding an external source of the missing nutrient can have significant positive effects.

The genetic defect that I have may be rare, I don’t know, but if glyphosate is able to substitute for glycine within physiology then an external source of purified glycine may also be beneficial for anyone eating foods based on ingredients that may contain traces of glyphosate.

Testing for the presence of glyphosate would not be as simple as testing for the free amino acid however; if it had been incorporated into proteins in place of glycine, then the glyphosate would only be discovered by the lab test if the longer protein chains were broken down first into the free amino acids — and glyphosate if it had been incorporated into the protein instead of glycine.

Another way to test to see if glyphosate is being incorporated into the structure of proteins in place of glycine would be to add radioactively tagged glyphosate into a system capable of assembling proteins and then test the new mixture to see whether the radioactively tagged glyphosate was used in place of glycine within the newly synthesized protein chains.

Glyphosate was found within vaccinations that were independently tested by a non-profit group, Moms Across America, but the company Monsanto has since stated that the lab screening that was used was invalid and the testing system Monsanto used found no residue of glyphosate in vaccinations. [http://monsantoblog.com/2016/09/13/monsanto-responds-to-flawed-study-by-samsel-claiming-glyphosate-in-vaccines/] — A test for free amino acids wouldn’t find glyphosate that had been incorporated into proteins of agar gelatin or viral proteins.

Series on glycine and use as a supplement for genetic defect–nutrigenomics:

  1. Glycine is an Amino Acid with Neurotransmitter Roles, 10/15/2016,  http://transcendingsquare.com/2016/10/15/glycine-is-an-amino-acid-with-neurotransmitter-roles/
  2. Cheerful Juice Lives Up to its Name, 10/20/16,  http://transcendingsquare.com/2016/10/20/cheerful-juice-lives-up-to-its-name/
  3. Cheerful Juice; the morning after,  10/20/2016,  http://transcendingsquare.com/2016/10/20/cheerful-juice-the-morning-after/

/Disclaimer: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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Methylation Cycle Defects – in me – genetic screening “for research purposes only”

I purchased an independent genetic analysis which clearly states that it is “For research purposes only. Not for use in diagnostic procedures.” The screening is for informational purposes as there isn’t a physician providing individual care. But that is okay since I enjoy research with an experimental group of N=1 (me).

The genetic screening panel, is self pay, not covered by insurance, and while the company provides free information it also sells nutritional supplements designed to support the special metabolic needs associated with defects in the methylation cycle, which can affect levels of B12 and folate in particular. The screening assessed my genes, (from a finger stick blood sample that I provided by mail), for thirty different gene mutations known to be involved in the methylation cycle, and found — drum roll — eleven mutations in my genes. Four of them are double mutations which I think means that the mutation is on both genes – no normal genes for that protein for me, means that my body has no recipe card to make four types of proteins.

And — drum roll — one of the single gene mutations is on my Vitamin D Receptor gene — specifically of the Fok1 type which has been associated with an increased risk for autoimmune disease.  With a single gene mutation I think roughly half of my Vitamin D Receptors might be normal and half might be three amino-acids longer than normal as described in the following excerpt from a research article about Type 1 Diabetes:

“Variants of the VDR gene have been associated with susceptibility to several autoimmune processes. The roles of the VDR gene polymorphisms depend on their locations (Slattery, 2007). FokI polymorphism is within the DNA binding domain, near the 5′ end, and the rest of the SNPs are in the 3′UTR region within the ligand binding domain. The FokI polymorphism creates an alternative ATG initiation codon in exon 2 leads to a 3 amino-acids longer VDR protein by directly introducing a start codon. A functional impact of this polymorphism on the immune response has been demonstrated (Colin et al., 2000; van Etten et al., 2007). However, VDR gene SNPs influence on VDR expression differ in different populations.” – Elham O. Hamed et. al., “Vitamin D Level and Fok-I Vitamin D Receptor Gene Polymorphism in Egyptian Patients with Type-1 Diabetes,” [http://app.egyptlearn.com/eji/pdf/june2013/1-Elham-Sohag.pdf]

I’m not sure if having an extra “start” codon on half of my Vitamin D Receptors makes them more “startable” / more over active, or whether it would make them less effective. The article suggests the mutation does leave patients more likely to become calcium and vitamin D deficient but it never mentions whether hormone D levels were ever measured or not.

A different older post has a citation that clarified the roles of vitamin D and hormone D. Vitamin D is actually only associated with a carrier protein that seems to act as an “off” switch and prevents it from activating the Vitamin D Receptor. Any free D that is not carried by the special carrier protein, becomes activated to the hormone. And since there are typically many, many more open Vitamin D Receptors in the body than the supply of active hormone could ever fill, any free D, if there is a deficiency or lack of the carrier protein, is likely to become activated to hormone D and then proceed to activate a Vitamin D Receptor. My lab tests and symptoms have always been worse when I have excess D so I’ve been wondering if I might have a genetic mutation in my D carrier protein gene, but this methylation cycle panel didn’t check that gene.

The four double mutations are in the genes: MTHFRC677T (Call – T), MTRR/A66G (Call – G), BHMT/1 (Call – T), and MAO A/R297R (Call – T).

The seven single mutations are in the genes: SHMT/C1420T (Call – Hetero), MTR/A2756G (Call – Hetero), BHMT/8 (Call – Hetero), CBS/A360A (Call-Hetero), COMT/V158M (Call-Hetero), COMT/H62H (Call-Hetero), as well as the VDR/Fok1 (Call-Hetero) mutation.

Genetic defects in the methylation cycle of expectant mothers or in the expected infant have been associated with an increased risk for autism developing in the infant later in life. Children with a COMT mutation were at increased risk to develop autism, but I will have to dig through old posts, (1, 2), to find that citation: [4: Schmidt RJ1, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I., Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism., Epidemiology. 2011 Jul;22(4):476-85, [http://www.ncbi.nlm.nih.gov/pubmed/21610500] I didn’t include the specific genetic mutations in the old posts; the article mentioned two for mothers and one for the child. The COMT 427 AA gene in the child turns out to be a slightly different mutation than the COMT mutations reported in my genetic panel, however I do have the double T mutation in my MTHFR 677 gene mentioned in this article as placing expectant mothers at increased risk for having a child with autism. But my CBS mutation is single and also different than the one mentioned in the following excerpt:

Excerpt from the Abstract:

“Significant interaction effects were observed for maternal MTHFR 677 TT, CBS rs234715 GT + TT, and child COMT 472 AA genotypes, with greater risk for autism when mothers did not report taking prenatal vitamins periconceptionally (4.5 [1.4-14.6]; 2.6 [1.2-5.4]; and 7.2 [2.3-22.4], respectively). Greater risk was also observed for children whose mothers had other one-carbon metabolism pathway gene variants and reported no prenatal vitamin intake.”

Excerpt from the article:

“However, children with the COMT 472 AA genotype were at increased risk for autism if their mothers reported having taken periconceptional prenatal supplements (OR = 1.8 [CI = 0.99–3.5]), and were at substantially higher risk if their mothers did not (7.2 [2.3–22.4];”              [4, full text article available]

The four double mutations are in the genes:

  1. MTHFRC677T (Call – T), Methylene tetrahydrofolate reductase, This version of the gene may have less activity than the more typical version of the gene (the T stands for Thymine, the more effective version has a C, cytosine). https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase  It may cause hyperhomocysteinemia especially if levels of folate, B6 and B12 are deficient. [http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648] May make deficiency of methylated folate more of a risk and make folic acid supplements not useful.
  2. MTRR/A66G (Call – G), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase or methionine synthase reductase, This mutation may increase risk for elevated levels of homocysteine and may affect folate and vitamin B12 methylation. Levels of B12 might be normal but not functional due to the lack of methylation. [http://mtrra66g.com/] * this site is commercial and recommends a methyl form of B12 however one of my other mutations might be affected negatively by excess methyl donors, see the selfhacked.com link in the #4 “warrior gene” within this list.  [https://ghr.nlm.nih.gov/gene/MTRR] [http://www.ncbi.nlm.nih.gov/gene/4552]
  3. BHMT/1 (Call – T), Betaine-homocysteine methyltransferase (BHMT),  This enzyme helps produce  the amino acids methionine and Dimethylglycine (DMG). DMG has been found helpful in ADHD, autism, allergies, alcoholism drug addiction, and chronic fatigue syndrome among other chronic issues. Methionine has been found helpful in treating depression, allergies, alcoholism and schizophrenia among other chronic issues. Hypothyroidism may be associated with over expression of this gene: [http://www.wikigenes.org/e/gene/e/635.html] Choline deficiency disease and hyperhomocysteinemia (a heart disease risk factor) may be associated with this gene — (not necessarily with this specific mutation though). The protein that the gene normally produces is necessary in metabolism and in the CDK-mediated phosphorylation and removal of Cdc6 SuperPath: [http://www.genecards.org/cgi-bin/carddisp.pl?gene=BHMT] And the CDK-mediated phosphorylation and removal of Cdc6 SuperPath involves 97 other pathways which include a Calcium2+ pathway and a Parkinsons Disease pathway and creatine metabolism (important for muscles) and synthesis of DNA and many other metabolic paths/chains of chemical events  (so a double mutation in this gene may make it difficult for me to make phospholipids endogenously, but this information is out of my depth, organic chemistry wise): [http://pathcards.genecards.org/card/cdk-mediated_phosphorylation_and_removal_of_cdc6] This double mutation in combination with the single mutation (+/-) in (#3 below) BHMT/8 and (#4 below)CBS/A360A may exacerbate each other’s negative effects on my body, causing an up-regulation of the CBS pathway and also may make it more difficult for me to remove toxic heavy metals from my body – see #4 in the next list for the link.
  4. MAO A/R297R (Call – T). “Monoamine oxidase A (MAO-A) is an enzyme in the brain,” Nick-named “The Warrior Gene” because levels need to be just right because it causes the breakdown of neurotransmitters and too little or too much can cause different symptoms from increased violence to increased anxiety and less aggression. “The G or GG allele indicates higher levels of the enzyme, while the T allele indicates lower levels (T is the ‘risk’ allele). (R)   In females, the G allele was associated with higher outward anger (p = 0.002) and it seems like G allele also causes aggression in males. (R)” The T version of R297R mutation is associated with generalized anxiety disorder (which was one of my earlier “diagnoses” but it was from talk therapy with a MSW so it never really “counted” with psychiatrists that I saw more recently.) “Females with TT reported higher levels of ‘‘angry temperament’’.  Female suicide attempters with TT reported higher ‘‘self-aggression’’” “Women are less likely to have these genes.” “People with the low activity MAO-A gene (2R, 3R) are overall more prone to violence. Specifically, when these people feel very provoked or socially isolated their aggression will come out. People with low MAO-A are more likely to be risk takers.  They are are also more likely to take revenge and use greater force if they get screwed over, but not for small screw overs. Mice with low MAO-A are also more aggressive in general and are more likely to start turf wars. People and mice with low MAO-A are more impulsive and aggressive. People with low MAO-A who are abused as kids show more aggressive behaviour as an adult.” The herbal supplement Gingko biloba, riboflavin (vitamin B2), bio-identical progesterone, and keeping to my circadian rhythm, (keeping a regular day/night wake/sleep cycle instead of pulling all-nighters and then sleeping in), may help me if I have low levels of the enzyme (and excess aggression/anxiety): [http://selfhacked.com/2014/12/07/about-mao-a-and-what-to-do-if-you-have-the-warrior-gene/] Reserpine, a drug based on an herb called Rauwolfia serpentina, or Indian snakeroot or sarpagandha may also help: [http://www.warriorgene.info/] * a commercial site.

The seven single mutations/polymorphisms are in the genes:

  1. SHMT/C1420T (Call – Hetero), Serine hydroxymethyltransferase, This polymorphism was not found to have an increased risk of Down’s Syndrome (DS) (thought possible because it affects folate) and levels of metabolites of the folate pathway seemed similar between the experimental groups of mothers (had children with DS) and control groups of mothers (did not have children with DS).  A protective role was actually found for this polymorphism (which sounds nicer than mutation, allele is another word for variations of the same gene.) [http://www.ncbi.nlm.nih.gov/pubmed/21687976]
  2. MTR/A2756G (Call – Hetero), methionine synthase gene, This mutation may cause up-regulation of the conversion of homocysteine to methionine which requires and might use up stores of methylated B12. [http://mtra2756g.com/] * a commercial site.
  3. BHMT/8 (Call – Hetero), see #3 above for general information about this gene’s protein.
  4. CBS/A360A (Call-Hetero), “CBS (cystathionine beta synthase) is a gene that converts homocysteine into cystathionine. 
The CBS pathway is the gateway into a number of essential biochemical processes. 
The biochemical pathways that follow and are linked to CBS are Transsulfuration and Glutathionine Synthesis.

 It is essential to address that Glutathione (GSH) is among the most important endogenously-produced antioxidants in every cell of the body. Glutathione activity in cells is critical for normal detoxification and defense mechanisms in every cell.” (I’m suggested to eliminate eggs from my diet — too late, they are already gone, but also cruciferous vegetables, onions and garlic – sad face. but I’m also suggested to avoid excess methyl donors like choline — and coffee is a methyl donor – sad face – it is already gone too, very sad face): “Restriction of supplemental methyl groups is important. We all need methyl groups, but those with active CBS up-regulations 
need to be cautious with how much sulfur and how many methyl groups they are taking in daily.
 This includes common supplements such as: L-methionine, L-cysteine, L-taurine, MSM, Glucosamine,  L-Glycine, DMSO, SAMe, NAC, methylcobalamin, methyl-folate, Betaine HCL, Choline. Restricting Vitamin B6 may also be warranted in CBS up-regulations. P5P (pyridoxal 5 phosphate), however, does not appear to increase CBS activity.” [http://metabolichealing.com/metabolic-gateways-cbs-gene-mutations-glutathione/] *That link is to a clinic. (So when my B6 runs out, I should special order the P5P version — which a pharmaceutical company is trying to patent as a prescription medication, if it can gain the FDA’s approval to make the more biologically active form of an essential nutrient unavailable without a prescription because it would interfere with their potential profits: “How does Medicure think it can get away with this? Its petition states rather candidly: “Pharmaceutical companies developing new drugs must be protected from companies that may seek to market the ingredients in those drugs as dietary supplements. The marketing of such products has the potential to undermine the incentive for the development of new drugs because many people may choose to purchase the supplements rather than the drugs.”” An essential nutrient is not a drug — companies have to tack on a fluoride or bromide or something else that makes the new chemical slightly different in order to be able to patent a chemical within the normal process. Bio-identical nutrients are not usually able to be patent protected – because they are essential, especially for people with metabolic defects in their ability to convert less active forms to the more active form. In my state, the Michigan Consumer Protection Act of 1976 is supposed to protect people from having their disability used against them in business transactions such as buying a supplement or prescription medication. 445.903x: “(x) Taking advantage of the consumer’s inability reasonably to protect his or her interests by reason of disability, illiteracy, or inability to understand the language of an agreement presented by the other party to the transaction who knows or reasonably should know of the consumer’s inability.“, And products aren’t supposed to misrepresented such as calling an essential nutrient a prescription medication: 445.903e: “(e) Representing that goods or services are of a particular standard, quality, or grade, or that goods are of a particular style or model, if they are of another.”  [http://www.legislature.mi.gov/(S(45hcye5dzt3luno152p33nku))/mileg.aspx?page=getobject&objectname=mcl-445-903])
  5. COMT/V158M (Call-Hetero), Catechol-O-Methyltransferase, Variations of this gene may lead to swings in dopamine levels that can cause mood swings. Red and purple foods may not be processed well and also may cause problems in mood swings for some people (like purple berries and red food dye (?) just reading, aghast that I’ve survived this long. Red food dye was one of my earliest migraine triggers.) [http://resqua.com/702188759/what-does-the-comt-gene-mutation-mean] Defects in this gene are associated with ADD/ADHD. [http://www.snpedia.com/index.php/Yasko_Methylation] And with panic disorder. [http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMT]
  6. COMT/H62H (Call-Hetero), see #5 above.
  7. VDR/Fok1 (Call-Hetero). – the gene for the Vitamin D Receptor, see the excerpts within the earlier text of this post. And: “VDR Fok is involved with Blood sugar regulation. VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR mutation means that a person is less sensitive to methyl group supplement levels. (Mood swings.) A VDR mutation can result in behaviors opposite to a COMT mutation. See Dr. Roberts comments at http://www.heartfixer.com/AMRI-Nutrigenomics.htm#VDR%20Taq:%20%20Vitamin%20D%20Receptor%20Taq%20Abnormality ” [http://www.snpedia.com/index.php/Yasko_Methylation] Dr. Roberts comments suggest that my normal VDR Taq gene helps balance the COMT +/- genes so that I have reasonable dopamine production but might have increased risk for mood swings. hmmmm

So I went and bought some more wild yam progesterone cream because I had run out a while ago and forgot to buy more and it has helped my mood and other peri-meopausal symptoms in the past. I also bought some Gingko biloba because I have also used that in the past with no problems and mood swings and self-aggression are no fun.

/Disclaimer: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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Autism, formaldehyde, folate, and vitamin D; a theory

Autism can leave a child unable to take care of themselves independently for the rest of their lives. At a rate of 1 child in 45, there were 3,932,181 births in the USA in 2013, so roughly that would suggest that 87,381 of those children will go on to develop some symptoms of autism or pre-primary developmental delay — and that possibly 87,381 parents will no longer be able to work at their normal jobs because they will be needed as full time caregivers for their child with autism, possibly for the rest of their lives. so if that rate held steady for the decade then in ten years there could be 1,747,620 children with autism and parents who may not be able to work at a normal job. When will it be enough children and parents to do something about?

I closed with the following paragraph but I’m going to paste it here too, as the best of the good news:

A method has been developed using samples of umbilical cord blood to identify which infants are likely to develop autism later in childhood. The method checks fifteen “biomarkers,’ — (various lab values or other physical signs, I haven’t read the full article yet, need to buy it) — infants whose values were more elevated or reduced compared to normal in a certain pattern were found to be predictive of which infants went on to develop autism. [] This is early research but it would help identify which infants were at risk for autistic changes in a year or two, but at birth instead of having to wait — and worry — for a year or two.

I have some good news and some bad news. It looks plausible that autism could be caused prenatally by a combination of low vitamin D (or possibly a vitamin D system that is blocked by pathogens), and low folate availability (possibly due to a genetic methylation defect, [4], defects that may make the supplemental form, folic acid, not as helpful prenatally and possibly even harmful because the folic acid may inhibit the activity of whatever folate is available, [29] ), and increased formaldehyde either from dietary sources like Nutrasweet or from smoking or living in small enclosed rooms with poor ventilation. Other toxins might also be involved that add to an increased risk for there to be production of autoimmune antibodies in the vitamin D deficient mother and fetus. Malfunction in the vitamin D receptor immune functions could lead to malfunctions in the dendritic cell’s ability to inhibit autoimmune overactivity in the immune system. Autoimmune antibodies might cause problems during fetal brain development or later in the child’s life.

Low vitamin D in infants has been associated with autism – but not for all siblings with low vitamin D — so other factors must be involved. And not taking a prenatal vitamin during the three months prior to pregnancy and the first month of pregnancy has been associated with more risk for having a child with autism and certain genetic defects in the methylation cycle that helps make the B vitamin folate more bioactive have been associated with autism risk [4] – but not every mother who doesn’t take prenatal vitamins during the months prior to becoming pregnant has a child with autism — so other factors must be involved.

Not much information is available about Nutrasweet but during digestion the methanol portion of the larger molecule is released which then is broken down into formaldehyde – which is a known cause of birth defects and a known neurotoxin.

Formaldehyde is produced when something is burned so it could be a concern for any people who are around cigarette smoke or inhale other types of smoke regularly. Formaldehyde can also collect in the air in small enclosed spaces, and increased warmth may also increase volatility of the gas so warmer areas or overheated apartments may allow for more accumulation of the gas in poorly ventilated rooms.

Formaldehyde is also found in prepackaged juice products, particularly in older packages, as formaldehyde is produced as the fruit or vegetable juice ages. Formaldehyde is also produced during digestion from the methanol portion of the alternative sweetener Nutrasweet. Studies on the potential risk of the formaldehyde content that might be available to adults from dietary Nutrasweet found that it was a less significant risk than the amount an adult might receive as a cigarette smoker or from environmental exposures. However an adult has a fully mature liver while a fetus does not. Babies and children also have less mature livers and may be more at risk of having chemicals accumulate to toxic levels because they are not being broken down and excreted quickly enough. (Folate, a B vitamin, is necessary to break down formaldehyde, more on that later.)

Formaldehyde can cross the placenta to the fetus where it accumulates to a larger concentration than within the mother’s bloodstream. The fetal liver tissue is less able to detoxify formaldehyde than the mother’s.

Industrial exposure to formaldehyde is associated with an increased risk of the presence of cancer causing human alpha fetoprotein antigens. Occupational exposure to formaldehyde has also been associated with increased levels of alpha fetoprotein in adult male and female subjects. The study subjects with occupational exposure to formaldehyde were also found to have significantly reduced levels of Total Protein, Albumin, and White blood cell count. Subjects with workplace exposure to formaldehyde reported allergic type symptoms including: “sneezing/airways-related symptoms, itching and watery eyes.” [3] Formaldehyde exposure may also be a cause of systemic allergic contact dermatitis, [15, 16] possibly even on the eyelids. {13] A diet designed to avoid formaldehyde intake may be helpful for alleviating the eczema like rash. [14]

Levels of alpha fetoprotein are normally only elevated in pregnant women and the expected infant.

Levels of maternal serum alpha fetoprotein are already being checked regularly as a prenatal screening test because low levels are associated with having a baby with the genetic condition Down’s Syndrome. Levels of maternal serum alpha fetoprotein have been found to be more elevated for the mothers of children with autism than in mothers whose child did not have autism. [1] Alpha fetoprotein (AFP) has immunomodulatory effects and a recombinant human alpha fetoprotein (rhAFP) version has been found to help alleviate autoimmune symptoms in clinical trials that used mice with “experimental autoimmune encephalomyelitis (EAE), the animal model used for the study of MS.” [2] Alpha fetoprotein is normally produced by the fetus and it does cross into the fetal brain where it seems to be involved with controlling estrogen and helping baby girls to be more feminine and less masculine.

/Speculation: So if alpha fetoprotein antigens are involved in causing autism maybe boys are more at risk for the condition because the estrogen connection somehow is protecting baby girls from developing the antigens. However if the basic problem is a malfunctioning dendritic cell system which is making it more difficult for the mother’s body and fetus’ body to accept the presence of each other’s foreign DNA then other proteins might also have antigen/autoimmune antibodies develop. Male infants may simply be more susceptible to autism because their Y chromosome is more foreign to the mother’s body than a female infant’s X chromosomes. / — Someone already figured this part out and explains it better than me, in a Medical Hypotheses journal – if you have the money for the journal article ($31.50, now added to my shopping list). An excerpt from the Abstract: “Prenatal/maternal factors linked to increased autism risk include valproic acid, thalidomide, alcohol, rubella, cytomegalovirus, depression, schizophrenia, obsessive-compulsive disorder, autoimmune disease, stress, allergic reaction, and hypothyroidism. It will be shown how each of these risk factors may initiate expression of genes which are sensitive to retinoic acid and/or estradiol – whether by direct promotion or by reducing production of alpha-fetoprotein. It is thus hypothesized here that autism is not a genetic disorder, but is rather an epigenetic disruption in brain development caused by gestational exposure to chemicals and/or conditions which either inhibit alpha-fetoprotein production or directly promote retinoic acid-sensitive or estradiol-sensitive gene expression. This causation model leads to potential chemical explanations for autistic brain morphology, the distinct symptomology of Asperger’s syndrome, and the differences between high-functioning and low-functioning autism with regard to mental retardation, physical malformation, and sex ratio.” – CR King [29]

So speculatively,

  • if formaldehyde can make it more likely for someone to make alpha fetoprotein antigens,
  • and maternal serum alpha fetoprotein levels are more elevated in the mother’s of children with autism,
  • and low vitamin D is more common in babies who have autism,
  • and vitamin D helps the dendritic cells of the mother and infant accept each other’s foreign DNA instead of making autoimmune antibodies against each other’s foreign proteins,
  • then low vitamin D might leave the dendritic cells unable to prevent autoimmune antibodies from developing
  • which then may cause changes in the developing fetal brain and may leave the child with autoimmune antibodies that may continue to cause changes in the child’s developing brain later in life.
  • The formaldehyde could be from Nutrasweet and bottled juice products and/or from cigarette smoke or other environmental sources or the combined total of all of the sources. The timing of the introduction of aspartame/Nutrasweet to the U.S. food supply in 1981 and the increase in rate of children with autism is very closely correlated. [5] Nutrasweet and Neotame were both inventions of the Monsanto Company and limited research about them is available. Neotame was invented as the patent for Nutrasweet was expiring and Monsanto was able to get FDA approval for it by 2002. The patent for Neotame was sold to a private equity firm, the J.W. Childs Equity Partners II. L.P.. [https://theredpillguide.wordpress.com/2012/02/23/the-red-pill-guide-neotame/]

So in summary the good news is autism may be preventable – but the bad news is that it will be difficult to prove and preventative education and treatment will likely need to be individualized as so many factors are involved.

A summary of the factors that may interact during the prenatal and/or perinatal  (three months prior to conception) time period in a way that may lead to the development of autism within the fetal brain.

Possible Vitamin D Issues – it might not just be a lack of vitamin D or sunshine:

  • Simple vitamin D deficiency
  • An underlying genetic defect in the Vitamin D Binding Protein causes a tendency to become vitamin D deficient more easily than normal. [10, 11, 12] (Might a simple protein deficiency then also add a risk to a simple deficiency of all important proteins?)
  • An underlying infection is present with a pathogen that is suppressing the vitamin D receptor system.

Possible Folate Issues:

  • Simple folate/folic acid deficiency/lack of prenatal vitamin during the perinatal time period. [4]
  • Genetic defect in mother affecting the methylation cycle makes her more susceptible for folate deficiency. [4]
  • Genetic defect in the fetus affecting the methylation cycle makes it more at risk for autism. [4]
  • A methylated form of the vitamin may be more effective for reducing risk of developing autism. The natural food form, folate, is more bioactive than the supplemental form, folic acid, that is used in prenatal vitamins. [29]

Formaldehyde might be accumulating from several sources [3, 5]:

  • Aseptically packaged juices
  • Nutrasweet
  • Neotame
  • Smoking
  • Badly ventilated air.
  • Workplace exposure

Other, other factors that may be involved in development of autism may include a variety of chemicals known to be toxic for brain development and which may be common in our modern environment. From the Abstract of a review article by Dr. Philippe Grandjean, MD and Philip J. Landrigan, MD, Neurobehavioural effects of developmental toxicity., (The Lancet Neurology, 2014):  “In 2006, we did a systematic review and identified five industrial chemicals as developmental neurotoxicants: lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene. Since 2006, epidemiological studies have documented six additional developmental neurotoxicants—manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. We postulate that even more neurotoxicants remain undiscovered. To control the pandemic of developmental neurotoxicity, we propose a global prevention strategy.” [30]

To help prevent autism from occurring prenatally we may also need to work together and we may need to work together as individuals rather than waiting for the government or a medical corporation to look further into a problem that might leave them at some risk of legal repercussions. Historically there have been several examples of government and corporate interests blocking the lawsuits of factory workers or townspeople whose health was damaged by industrial chemicals by showing expert testimony demonstrating that the supposedly ‘harmful’ toxin really had some beneficial use and was really a safe and helpful ‘treatment.’

Part of the bad news that didn’t make it into the earlier discussion of the digestion of menthol and formaldehyde is that humans have a genetic defect that makes menthol extremely more toxic to us than to all other animals — so lab research would demonstrate that menthol isn’t really that bad after all –(to lab animals, that is, but let’s keep that part a secret between corporate research scientist’s and their consciences). So in a global corporate NAFTA/TPP type world where a corporation can sue nations over lost profits, feasibly corporate research scientists and lawyers could force nations to either accept the products made with aspartame and Neotame whether it is a risk to their citizen’s health or not, or else pay the corporation for their estimated lost profits.

Aspartame and Neotame are so much sweeter than sugar that they are simply cheaper to use in food products than sugar, and since its introduction in 2002 Neotame has never even had to be listed with the ingredients, so sweet, delicious, calorie free and guilt free, no alternative sweetener was used in that product according to the label. Aspartame is the number one food additive for consumer complaints to the FDA about adverse side effects. With Neotame not ever being listed on the food label consumers have no idea if they consumed it or not even if they do have an adverse effect and we have no idea if the FDA would have received consumer complaints about the food additive because it was never required to be added to the ingredient label. People who avoid aspartame due to it causing migraines can’t look for Neotame on the ingredient list.

Avoiding all processed foods and all restaurant meals seems like a lot to ask of pregnant women but that might be necessary in order to avoid Neotame. And with Neotame as a possible source of formaldehyde for the developing fetus then as a prenatal nutrition counselor that would be the most cautious advice given the research that is already known about menthol and formaldehyde’s risks to fetal development. Avoiding all toxins and reducing stress and risk of infection would be the ideal goal for all pregnant women.

Working towards removing aspartame/Nutrasweet and Neotame from the food supply may be an impossible goal given the deep pockets of corporations but trying to get Neotame added to the ingredient list seems like a necessary compromise or first step if we are really going to be able to help prenatal and perinatal women avoid all sources of formaldehyde in the hopes of helping prevent autism from developing in the child later in life.

*This got long and complicated and there’s more: Other, other factors include undiagnosed hypothyroidism and undiagnosed iodine deficiency and BPA/pthalate exposure. Each individual mother/child with autism may have a slightly different combination of genetic and nutritional susceptibilities and load of various environmental toxins and maybe even folic acid (supposedly helping prevent spina bifida but may be adding to autism risk for the babies of moms who have certain genetic defects in the methylation cycle).

So this is a preliminary draft of a preventative health education strategy for trying to prevent autism. A longevity study that started with women at least three months prior to conception and followed them and their children for years would be able to try a multi-factored prevention plan and wait and see if fewer of the children developed autism than compared to the rate of children developing autism in the average population. [rate at 1 in 45 births, Nov. 2015, CDC, http://health.usnews.com/health-news/articles/2015/11/13/cdc-child-autism-rate-now-1-in-45-after-survey-method-changes] Imprecise diagnostic criteria makes it easier for insurance companies to deny coverage.

A method has been developed using samples of umbilical cord blood to identify which infants are likely to develop autism later in childhood. The method checks fifteen “biomarkers,’ — various lab values — infants whose values were more elevated or reduced compared to normal in a certain pattern were found to be predictive of which infants went on to develop autism. [] This is early research but it would help identify which infants were at risk for autistic changes in a year or two, but at birth instead of having to wait — and worry — for a year or two.

/Disclosure: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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