Smoking gun of genetic mutations

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FatherOf2
Posts: 1675
Joined: Mon Mar 11, 2013 1:37 am

Smoking gun of genetic mutations

Postby FatherOf2 » Sat Feb 11, 2017 5:39 pm

I finally got 23&me results for my whole family. I already had genetic results for my autistic son and wanted to see if his fraternal twin brother, who doesn't have autism, and I have the same mutations. My autistic son also has the following methylation-related homozyogous mutations that are only present in him:

rs1801131 MTHFR A1298C GG
rs2066470 MTHFR 03 P39P AA

Both mutations affect conversion of folic acid to 5-methyltetrahydrofolate. Finally, my son has the following unique homozygous mutations that affect his psychiatric health:

rs2270641 SLC18A1 Thr4Pro GG
rs701567 DAOA TT

They lead to an excessive build up of monoamine neurotransmiiters (norepinephrine, epinephrine, dopamine, and serotonin) and glutamate.
Last edited by FatherOf2 on Sun Feb 12, 2017 12:58 am, edited 1 time in total.

crazydaddy
Posts: 37
Joined: Wed Dec 07, 2016 1:05 pm

Re: Smoking gun of genetic mutations

Postby crazydaddy » Sat Feb 11, 2017 9:51 pm

So obviously these gene mutations cannot be changed but have you done any research into what can be do to alleviate the symptoms associated with these mutations so that the ASD behaviors are reduced?

Reduction in behavior = better opportunity for learning and development, etc.

Thoughts?

FatherOf2
Posts: 1675
Joined: Mon Mar 11, 2013 1:37 am

Re: Smoking gun of genetic mutations

Postby FatherOf2 » Sun Feb 12, 2017 12:28 am

crazydaddy wrote:So obviously these gene mutations cannot be changed but have you done any research into what can be do to alleviate the symptoms associated with these mutations so that the ASD behaviors are reduced?

Reduction in behavior = better opportunity for learning and development, etc.

Thoughts?

That is the whole idea behind this genetic testing. I wrote a long post about CNTNAP2 mutations, but it turns out that I made a mistake in reading the alleles, and my whole family has the same SNP's in this gene, which appear to be normal. That's a relief!

rs2270641 SLC18A1 GG
SLC18A1 controls production of vesicular monoamine transporter 1 (VMAT1), a protein, which is embedded in synaptic vesicles and serves to transfer monoamines (norepinephrine, epinephrine, dopamine, and serotonin) between cytosol and synaptic vesicles. GG mutation in SLC18A1 increases VMAT1 expression, resulting in excessive accumulation of monoamine neurotransmitte rmolecules in vesicles with subsequent release in synapse, contributing to mania and psychosis., 3.7x higher risk of schizophrenia.
Treatment: Reserpine, found in Rauwolfia serpentina, which prevents intracellular neurotransmitters from binding to VMAT proteins and stops secretory vesicles from uptaking neurotransmitters (3x affinity to VMAT2 vs VMAT1).

rs701567 DAOA TT
D-amino acid oxidase activator (DAOA) degrades D-serine, a potent activator of NMDA receptors. DAO also breaks down histamine. Mutations are associated with cognitive manic symptoms, schizophrenia and bipolar affective disorder. The risk alleles are A and G http://www.ajol.info/index.php/ajpsy/article/viewFile/61880/49951.pdf. The significance of TT is not known.
Treatments:
- B12, B6, iron, copper and vit C are necessary for our body to produce enzyme DAO
- Olive Oil increases the release of DAO into the blood stream by up to 500%
- Nutrahacker recommends Idebenone, Piracetam, Magnesium, Taurine, Lithium orotate

rs1801131 MTHFR A1298C GG
rs2066470 MTHFR 03 P39P AA

These genes convert folic acid to 5-methyltetrahydrofolate. A1298C mutation leads to low BH4, excess ammonia, low nitric oxide. 03 P39P mutation leads to high homocysteine and low folate, but its importance is questionable.
Treatments:
- BH4 supplement
- methylfolate (for low folate)
- B3 (for low nitric oxide)
- Potassium
- Ornithine (for high ammonia)
- B6, B12


So far we tried:
- methyl folate: didn't help
- leucovorin calcium (folinic acid): helped somewhat, but caused hyperactivity and irritability
- MB12 injections: didn't help
- Hydroxy B12 orally: didn't help
- B6: caused irritability
- B3: makes his ears burn, slight improvements
- Vit C: didn't help
- Olive oil: didn't help
- Ornithine: didn't help
- Iron: hard to say
- Magnesium: no effect
- Lithium: hard to say
- Piracetam: a big wow, was the first supplement we started with, triggered speech
- Taurine: helped with sleep

Left to try:
BH4
Reserpine

Either these mutations are not really relevant to ASD, or I haven't tried a potent substance yet.

calbreezy
Posts: 7
Joined: Mon Apr 20, 2015 9:41 pm

Re: Smoking gun of genetic mutations

Postby calbreezy » Sun Feb 12, 2017 12:28 pm

FatherOf2 wrote:
crazydaddy wrote:So obviously these gene mutations cannot be changed but have you done any research into what can be do to alleviate the symptoms associated with these mutations so that the ASD behaviors are reduced?

Reduction in behavior = better opportunity for learning and development, etc.

Thoughts?

That is the whole idea behind this genetic testing. I wrote a long post about CNTNAP2 mutations, but it turns out that I made a mistake in reading the alleles, and my whole family has the same SNP's in this gene, which appear to be normal. That's a relief!

rs2270641 SLC18A1 GG
SLC18A1 controls production of vesicular monoamine transporter 1 (VMAT1), a protein, which is embedded in synaptic vesicles and serves to transfer monoamines (norepinephrine, epinephrine, dopamine, and serotonin) between cytosol and synaptic vesicles. GG mutation in SLC18A1 increases VMAT1 expression, resulting in excessive accumulation of monoamine neurotransmitte rmolecules in vesicles with subsequent release in synapse, contributing to mania and psychosis., 3.7x higher risk of schizophrenia.
Treatment: Reserpine, found in Rauwolfia serpentina, which prevents intracellular neurotransmitters from binding to VMAT proteins and stops secretory vesicles from uptaking neurotransmitters (3x affinity to VMAT2 vs VMAT1).

rs701567 DAOA TT
D-amino acid oxidase activator (DAOA) degrades D-serine, a potent activator of NMDA receptors. DAO also breaks down histamine. Mutations are associated with cognitive manic symptoms, schizophrenia and bipolar affective disorder. The risk alleles are A and G http://www.ajol.info/index.php/ajpsy/article/viewFile/61880/49951.pdf. The significance of TT is not known.
Treatments:
- B12, B6, iron, copper and vit C are necessary for our body to produce enzyme DAO
- Olive Oil increases the release of DAO into the blood stream by up to 500%
- Nutrahacker recommends Idebenone, Piracetam, Magnesium, Taurine, Lithium orotate

rs1801131 MTHFR A1298C GG
rs2066470 MTHFR 03 P39P AA

These genes convert folic acid to 5-methyltetrahydrofolate. A1298C mutation leads to low BH4, excess ammonia, low nitric oxide. 03 P39P mutation leads to high homocysteine and low folate, but its importance is questionable.
Treatments:
- BH4 supplement
- methylfolate (for low folate)
- B3 (for low nitric oxide)
- Potassium
- Ornithine (for high ammonia)
- B6, B12


So far we tried:
- methyl folate: didn't help
- leucovorin calcium (folinic acid): helped somewhat, but caused hyperactivity and irritability
- MB12 injections: didn't help
- Hydroxy B12 orally: didn't help
- B6: caused irritability
- B3: makes his ears burn, slight improvements
- Vit C: didn't help
- Olive oil: didn't help
- Ornithine: didn't help
- Iron: hard to say
- Magnesium: no effect
- Lithium: hard to say
- Piracetam: a big wow, was the first supplement we started with, triggered speech
- Taurine: helped with sleep

Left to try:
BH4
Reserpine

Either these mutations are not really relevant to ASD, or I haven't tried a potent substance yet.


interesting. I wouldn't discount the other mutations because the mutations that are unique to him from the rest of the family may be triggering something in the other mutations - if that makes any sense. So at a minimum I would think you would need to support them too.

We use a transdermal cream for methylation support. It contains MB12, Hydoxy B12, methyl folate, D3 and B6 (P5P). No big wow but he is better on it than off of it. We are hetero for both of those mutations.

Also I know you indicated in a previous post that you don't vaccinate your son anymore but if you did prevously - it is possible that his body is still hanging on to those toxins from earlier vaccinations. We started a homeopathic protocol (not chelation with DMSA) for all of my son's previous vaccinations and I have been amazed that he has been much happier after the first week. The first week was for the HIB vaccine which I believe the last time we had that one was around 15 months (he is 4 1/2 now). So to see a benefit would indicate that he was stlll holding on to the toxins of that vaccination after all this time. Of course we also started the sulphoraphane a week prior to that so I can't be sure what is doing what.

I guess my point is that you have to address the mutations for methylation and also address damage that built up prior to getting the methylation moving. So increase methylation support and also anything that also combats the inflammation. Liver support is crucial. (I don't think I am doing enough of this for my son),

We are also doing cranial massage therapy which has been a huge help (in my opinion) in helping release some of the brain inflammation. I was uneasy about this at first but we have an amazing practitioner. With that said speech is still an issue for us. We have some piracetam however I believe you need choline support for that. We added some in and I didn't love his behaviors on it. I wouldn't say his behaviors were awful - just more exaggerated than usual.

FatherOf2
Posts: 1675
Joined: Mon Mar 11, 2013 1:37 am

Re: Smoking gun of genetic mutations

Postby FatherOf2 » Mon Feb 13, 2017 1:34 am

calbreezy wrote:interesting. I wouldn't discount the other mutations because the mutations that are unique to him from the rest of the family may be triggering something in the other mutations - if that makes any sense. So at a minimum I would think you would need to support them too.

We use a transdermal cream for methylation support. It contains MB12, Hydoxy B12, methyl folate, D3 and B6 (P5P). No big wow but he is better on it than off of it. We are hetero for both of those mutations.

Also I know you indicated in a previous post that you don't vaccinate your son anymore but if you did prevously - it is possible that his body is still hanging on to those toxins from earlier vaccinations. We started a homeopathic protocol (not chelation with DMSA) for all of my son's previous vaccinations and I have been amazed that he has been much happier after the first week. The first week was for the HIB vaccine which I believe the last time we had that one was around 15 months (he is 4 1/2 now). So to see a benefit would indicate that he was stlll holding on to the toxins of that vaccination after all this time. Of course we also started the sulphoraphane a week prior to that so I can't be sure what is doing what.

I guess my point is that you have to address the mutations for methylation and also address damage that built up prior to getting the methylation moving. So increase methylation support and also anything that also combats the inflammation. Liver support is crucial. (I don't think I am doing enough of this for my son),

We are also doing cranial massage therapy which has been a huge help (in my opinion) in helping release some of the brain inflammation. I was uneasy about this at first but we have an amazing practitioner. With that said speech is still an issue for us. We have some piracetam however I believe you need choline support for that. We added some in and I didn't love his behaviors on it. I wouldn't say his behaviors were awful - just more exaggerated than usual.

Which brand of methylation cream do you use? I found two on amazon: from NuMedica and from NeuroBiologix.
What is the homeopathic protocol for detoxing from vaccines?

As far as mutations present in all my family, I am not discarding them. It appears that the compound effect of them is poor production and poor breakdown of neurotransmitters. If I fix the production part (MTHFR mutations), I will end up with too much neurotransmitters, irritability, SIB, and psychosis. If I fix the breakdown part of it (which is nearly impossible), I will end up with poor cognition, memory, and depression. To improve attention, cognition and learning, I need dopamine, and specifically activate D1 receptors. To reduce anxiety, I need serotonin or GABA. Or, I just pump more blood into the brain, and with it oxygen and nutrients, and let the internal processes to handle the rest.

By the way, all the genetics stuff is just a theory that may have nothing to do with a true cause of ASD. It could be all about a brain injury, which often manifests itself as ASD (poor cognition, learning, behaviors, abnormal EEG).

calbreezy
Posts: 7
Joined: Mon Apr 20, 2015 9:41 pm

Re: Smoking gun of genetic mutations

Postby calbreezy » Sun Feb 19, 2017 12:21 am

FatherOf2 wrote:
calbreezy wrote:interesting. I wouldn't discount the other mutations because the mutations that are unique to him from the rest of the family may be triggering something in the other mutations - if that makes any sense. So at a minimum I would think you would need to support them too.

We use a transdermal cream for methylation support. It contains MB12, Hydoxy B12, methyl folate, D3 and B6 (P5P). No big wow but he is better on it than off of it. We are hetero for both of those mutations.

Also I know you indicated in a previous post that you don't vaccinate your son anymore but if you did prevously - it is possible that his body is still hanging on to those toxins from earlier vaccinations. We started a homeopathic protocol (not chelation with DMSA) for all of my son's previous vaccinations and I have been amazed that he has been much happier after the first week. The first week was for the HIB vaccine which I believe the last time we had that one was around 15 months (he is 4 1/2 now). So to see a benefit would indicate that he was stlll holding on to the toxins of that vaccination after all this time. Of course we also started the sulphoraphane a week prior to that so I can't be sure what is doing what.

I guess my point is that you have to address the mutations for methylation and also address damage that built up prior to getting the methylation moving. So increase methylation support and also anything that also combats the inflammation. Liver support is crucial. (I don't think I am doing enough of this for my son),

We are also doing cranial massage therapy which has been a huge help (in my opinion) in helping release some of the brain inflammation. I was uneasy about this at first but we have an amazing practitioner. With that said speech is still an issue for us. We have some piracetam however I believe you need choline support for that. We added some in and I didn't love his behaviors on it. I wouldn't say his behaviors were awful - just more exaggerated than usual.

Which brand of methylation cream do you use? I found two on amazon: from NuMedica and from NeuroBiologix.
What is the homeopathic protocol for detoxing from vaccines?

As far as mutations present in all my family, I am not discarding them. It appears that the compound effect of them is poor production and poor breakdown of neurotransmitters. If I fix the production part (MTHFR mutations), I will end up with too much neurotransmitters, irritability, SIB, and psychosis. If I fix the breakdown part of it (which is nearly impossible), I will end up with poor cognition, memory, and depression. To improve attention, cognition and learning, I need dopamine, and specifically activate D1 receptors. To reduce anxiety, I need serotonin or GABA. Or, I just pump more blood into the brain, and with it oxygen and nutrients, and let the internal processes to handle the rest.

By the way, all the genetics stuff is just a theory that may have nothing to do with a true cause of ASD. It could be all about a brain injury, which often manifests itself as ASD (poor cognition, learning, behaviors, abnormal EEG).


We use Neurobiologix for the methyl cream - it absorbs pretty quick so I usually put it on his back first thing in the morning and then about an hour before bed. It does not make him hyper just slightly more happy and he sleeps better. We also use the glutathione cream made by them. There is a lot of studies that show that only liposomal oral glutathione actually works but the taste is horrible and I couldn't get him to take it. If you decide to try liposmal glutathione then be careful of yeast flareups. Another route to try may be NAC which is a precursor to glutathione. I read a lot of success stories on this board. We tried it as one of our first interventions and we really didn't notice any WOWs even though it one of the supplements that is encouraged according to his genetic profile.

The vaccination drops are mixed by our naturopathic doctor. She is in South Windsor CT. I tried the first vile and it honestly tasted like water. I will ask her if there is something comparable online that can be purchased, however she did the muscle testing to determine if he needed them first. I am not sure how much faith I put into the muscle testing but she hasn't steered us wrong.

I agree with you on treating it like a brain injury. I recall you tried Lutimax but I don't remember if you had a good experience. I believe the the makers of Neuroprotek actually now have a a formula with luteolin without the rutin which may yield good results.

We stopped the broccoli extract this week. I still like it but his appetite has been terrible since we started it, The same thing happened when we tried ALA for a while. We actually loved ALA - he very calm and focused on it but he wasn't eating at all. I don't know what it is about the antioxidants and appetite with him. We did not use ALA for chelation - we used it as an antioxidant - only 100 mg a day.

We are starting Enhansa tomorrow which I know is either a big hit or a big miss. We shall see. I am also curious about l'methionine but I haven't seen it talked about too much on this board.


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