Digging Into the Disequilibrium of Gavin’s DNA

It’s been a long six years on the road of autism management. (I can’t say autism recovery or a bunch of adults who can type and actually express deep feelings to another person will send me angry messages, while not understanding the struggles my nonspeaking son has went through in his short life so far.)

All this worry and research, good days and bad days, therapist after therapist, drive after drive, french fry after french fry, and having so many ideas and information but not having real life-changing answers.

I did a DNA test for Gavin in June of 2019. It was pretty involved, from a company called IQYOU which now seems defunct. The DNA results were long (a PDF of 66 pages) and at the time, I didn’t know (or catch) everything I do now. I opened it up again to extrapolate what I can, a couple of years later.

It pains me to do this, because as I do it, I think about the time I have lost during his brain development. Granted, luckily, he has had many supplements, a clean diet for the most part, and has been extremely loved, kissed, hugged and challenged to become better and better. I hope there is more time to help him develop and overcome his challenges through better nutrition and medicine which is customized for him, and not just a blanket autism suggestion. This is why I am focused for the rest of this year and for 2022 on just his genetic testing, his brain, his second brain (the gut) and other lab testing. There’s something about Gavin that makes me think he is suffering from an autonomic system disorder, and not just this thing we all call autism. I have always wanted to find the root of his problems so that we can alleviate his symptoms and open his world. I never stop looking for our rock to over turn.

One big glaring problem is that he has is a vitamin D issue. So he definitely needs to be on supplements. I am just glad he has been in the daylight and sun more than ever in the past year! Hopefully that helped.

Another big issue, Gavin has a variant in the BDNF gene. Three of them? rs10501087, rs4923461, rs4074134 CC/CC/TT so luckily only one part is TT which is the lowest producing according to studies. I don’t know why I didn’t notice this before. The brain derived neurotrophic factor. “BDNF is believed to be one of the main factors that are responsible for creating new neurons in the brain (neurogenesis), as well as helping existing neurons develop new connections, or adjust their existing connections to other brain cells (synaptic plasticity). In the brain, BDNF is active in the hippocampus, cortex, and forebrain – areas vital to learning, memory, and higher thinking. Hence, many researchers believe that BDNF is important for learning and long-term memory, and many other cognitive functions.”

PDE11A rs1880916GG:

PGC , C/CCC:

You have a variant in the SLC25A12 gene that is thought to impair mitochondrial function, the part of the cell that generates energy. Specifically, this mutation impairs the ability of cells to oxidize cytosolic nicotinamide adenine dinucleotide (NADH), a compound important for energy production, particularly in nerve cells.

TLR4 rs10759931GG: You have a variant in the TLR4 gene that’s associated with an increase in the production of inflammatory compounds. Toll-like receptor 4 is a protein that is encoded by the TLR4 gene. The toll-like receptor family of proteins play a fundamental role in identifying patterns found on pathogens, and appropriately activating the innate immune system. 

PTGS2 rs20417CC:

SREBF1 rs4925115: The SREBF1 gene (also known as SREBP1) codes for a protein that binds to DNA and promotes other genes involved in regulating the metabolism of sterols. You carry one copy of a variant that impairs
insulin regulation, and for which fish oil supplementation has detrimental effects on glucose and insulin
levels.

MTNR1B rs4753426: You have a variant in the MTNR1B gene which may impair the function of the hormone melatonin. The MTNR1B (Melatonin Receptor 1B) gene is a gene involved in cellular communication of cells that
are involved with the hormone melatonin, which aids in regulating sleep. Mutations of this gene not
only affect sleep habits but also blood sugar and insulin regulation, as well as blood lipid levels. You
carry two copies of the variant associated with impaired glucose and lipid profiles. Carriers of some of
the variants within this gene have seen benefit to glucose and lipid profiles by reducing dietary fat
content, as well as by moving dinner to an earlier time (i.e. late night dinners further impair the
beneficial impact of melatonin on metabolic homeostasis). For more information on this gene, click
here.

CC
You have a variant in the NAT2 gene that is linked to slower detoxification of numerous environmental
toxins, including those from cigarettes and meats. The NAT2 gene encodes an enzyme called NNAT2 rs1799930
acetyltransferase 2, that is part of the second phase of liver detoxification. You have two copies of a
variant associated with lower activity of this enzyme; when combined with toxin exposure, it has been
linked to carcinogenic changes, including bladder, breast, and colorectal tissue. Avoiding cigarette
smoke and reducing exposure to red and heavily cooked meats may help to mitigate this risk. For more
information on this gene, click here.For more information on this gene, click here.
AA
You have 2 copies of a genetic variant associated with lower detoxification (methylation) of arsenic.
You may need to take special precautions to reduce your exposure to arsenic. The arsenite
methyltransferase enzyme is encoded by the AS3MT gene. It is involved in detoxification pathways
that rid the body of carcinogenic arsenic compounds. These arsenic compounds are also implicated in
metabolic conditions. Accordingly, loss of AS3MT activity increases carcinogenic risk and metabolic
risk. For more information on this gene, click here.
AS3MT rs3740393
GG
You have a variant of the GPX1 gene associated with lower activity of the enzyme coded by this gene.
This enzyme catalyzes the attachment of glutathione to numerous environmental toxins as well as
toxins produced by the body, helping to eliminate them. Lower activity of this enzyme means that
environmental toxins as well as free radicals generated by normal cellular activity will persist longer.
Supporting glutathione production with amino acid building blocks, such as N-acetylcysteine, may be
warranted.For more information on this gene, click here.
GPX1 rs1050450
AA
You have a variant in the NAT2 gene that is linked to slower detoxification of numerous environmental
toxins, including those from cigarettes and meat, increasing their potential toxicity. The NAT2 gene
encodes an enzyme called N-acetyltransferase 2, that is part of the second phase of liver detoxification.
Lower activity of this enzyme, particularly when combined with toxin exposure, has been linked to
carcinogenic changes, including bladder, breast, and colorectal tissue. Avoiding cigarette smoke and
reducing exposure to red and heavily cooked meats may help to mitigate this risk. For more
information on this gene, click here.For more information on this gene, click here.
NAT2 rs1041983
TT
You have a variant in the GSTM1 gene that impairs the detoxification of many environmental toxins.
The glutathione S-transferases (GSTs) are a family of enzymes that play an important role in
detoxification. This enzyme catalyzes the attachment of glutathione to numerous environmental toxins
as well as toxins produced by the body, helping to eliminate them. Lower activity of this enzyme means
that environmental toxins as well as free radicals generated by normal cellular activity will persist
longer. Supporting glutathione production with amino acid building blocks,

AG
GSTP1 rs749174
You have a variant in the GSTP1 gene that impairs the detoxification of many environmental toxins.
The glutathione S-transferases (GSTs) are a family of enzymes that play an important role in
detoxification. This enzyme catalyzes the attachment of glutathione to numerous environmental toxins
as well as toxins produced by the body, helping to eliminate them. Lower activity of this enzyme means
that environmental toxins as well as free radicals generated by normal cellular activity will persist
longer. Supporting glutathione production with amino acid building blocks, such as N-acetylcysteine,
may be warranted. For more information on this gene, click here.
AG
You have a variant in the MTHFD1L gene that is associated with lower levels of an enzyme involved
in DNA synthesis and methylation. The MTHFD1L gene contains instructions for the production of an
enzyme called formyltetrahydrofolate synthetase, which requires vitamin B12 to become active and
functional. This B12-dependent enzyme is important because it is involved in maintaining adequate
methionine levels inside our cells, and keeping homocysteine levels in check. Methionine is a key
compound used in a process called methylation, affecting all kinds of important activities in the body.
Effective methylation is extremely important because it is required for turning genes on and off, the
production of brain chemicals (e.g., the neurotransmitters dopamine, serotonin, epinephrine), the
creation of immune cells and of the protective coating on nerves (called myelin), and the processing of
chemicals, toxins and already used hormones (called detoxification). The enzyme affected by the
MTHFD1L, formyltetrahydrofolate synthetase, must work well for methylation to occur properly. In
addition, this enzyme is involved in the synthesis of purines, including adenine and guanine, which are
two of the four letter alphabet that makes up our DNA. You have one copy of a variant associated with
lower activity of this enzyme, which is linked to greater risk for cardiovascular disease. Your full
health report includes the diet, supplement and lifestyle recommendations that will enable you to
compensate for this SNP and improve your methylation ability.For more information on this gene, click
here.
MTHFD1L rs6922269
AG
You have the normal variant of the MGMT gene, involved in DNA repair. O-6-Methylguanine-DNA
methyltransferase enzyme is encoded by the MGMT gene. It repairs mutagenic DNA damage caused
by chemicals found in the environment, in tobacco smoke, in the diet, as well as naturally occurring
waste chemicals in the body. For more information on this gene, click here.
MGMT rs2308321
AA
You have the normal variant of the GCLM gene, which plays a role in glutathione synthesis. The
GCLM gene encodes for glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase,
the first rate-limiting step in the production of glutathione. This means that the activity of this enzyme
is perhaps the most important determinant of the rate of glutathione production. Perhaps the most
important cellular antioxidant, glutathione binds with many environmental toxins and free radicals,
helping them to be excreted from the body. For more information on this gene, click here.
GCLM rs41303970
GG
You have the normal variant of the GCLC gene, a critical gene responsible for the production of the
GCLC rs17883901
cellular antioxidant glutathione. GCLC, Glutamate-cysteine ligase, is an enzyme in the pathway of a
powerful antioxidant called glutathione. This enzyme is what is known as the rate-limiting enzyme in
glutathione synthesis, i.e. the production of glutathione is primarily dependent on the activity of this
enzyme. Increased exposure to free radicals and environmental toxins normally turns this gene on,
allowing for greater glutathione detoxification of hazardous substances. For more information on this
gene, click here


There’s also the weird issue with Gavin’s toe. Any physician who has looked at his left big toe has no idea. They say it may not be worth getting a biopsy. Gavin has one longitudinal melanonychia (black stripe) since he was around three years old. It continues to grow directly from his nail bed and never disappears like a bruise or injury would eventually do. I read this stripe could be from Addison’s disease, which has symptoms of vitamin D deficiency but he is not so unhealthy that I would think he has Addison’s. But there’s something about this toe and I think it means there is something insufficient, somewhere.