My Genetic Genie Results. Where do I go from here?

[SmokinJoeFraz93]

So I had my 23andMe results in 2017, but only recently have requested my results from Genetic Genie. My main purpose of doing this was to find out if there was anything genetically going on inside that can account for my autistic symptoms (undiagnosed) that I KNOW ME/CFS has made a whole lot worse.

Any help would be greatly appreciated.

 

[Moof]

The only SNP on the first page for which you've tested homogeneous, rs731236, is fairly common and not known to be harmful.

The second, rs1799930, may be associated with a slight increase in risk for hearing loss. It probably isn't very meaningful, especially compared to much more damaging environmental factors such as loud music, etc.

Everything else looks good. The MTHFR variants are heterogeneous, so probably won't have much of an effect (I'm homozygous for a couple of them, but I don't think even that makes much difference – I don't have high homocysteine, for instance).

 

[kurt]

This is an old theory now that has not been validated to my knowledge. I have a large family and have run genetic genie for everyone. I have CFS and have a child with autism, a child with CFS, a child who is a brilliant engineer with an Ivy League education. I also have several other healthy children and one with MCAS. I won't go into the details but basically my family disproves the methylation autism connection. There is no causal correlation I can see. One of the children with the worst methylation is the most functional. However methylation support is helpful in a few areas for some of us. .

In my own case, Methylation Support has been very helpful. It seems to prop up my basic neurochemistry. Without it I spiral down mentally. It has the same affect on my child with autism. Although that child can only tolerate a tiny amount. But it does not do much for the autism or CFS symptoms, it seems to do more for the neurochemistry than anything else. Based on my experience I suspect MethylationSupport helps brain detox.

However, this is interesting, our genes for IDO, the methylation trap, precisely match those who have CFS and those who don't. And the children who have partly dysfunctional IDO are the ones with minor health problems. The children with good IDO are the healthy ones. Regardless of their methylation genetics.

Also, if you're interested in understanding your autism better. Look for a recent article on an animal model where the discovery of hyperplasticity was made. There is some evidence that autism involves hyperplasticity, hypersensitivity and hyperactivity in the brain stem. I can look for the article if you are interested.

Looking at your results, your methylation is at 60% of normal for folate metabolism, which is pretty decent. But with CFS you still might benefit from Methylation Support. Particularly methyl form folate. But I would study that first. Some people are very sensitive to it. And You need cofactors.

 

[Moof]

This is an old theory now that has not been validated to my knowledge.

I agree – I am diagnosed with high-functioning autism, but it's a complex condition that's unlikely to be explained by a theory like this.

I didn't take any additional B vitamins until I developed cobalamin malabsorption in my 50s, caused by long-standing gastritis. The B12 injections, and the high-dose methyl folate that I took to help it work, did address the deficiency very successfully. There was no change in my autism symptoms before I developed B12 deficiency, during the period when it was at its worst (and highly symptomatic), or once I'd got it under control with these additional supplements.

I'm not sensitive to methyl folate, but as I don't like taking unnaturally large doses of anything, I reduced it to a small dose just once a week as soon as my B12 level had normalised. Neither the large nor the small dose seemed to makes any difference to ME or autism – at least, not one that I could detect.

It might be helpful to be assessed for autism, @SmokinJoeFraz93, so that at least you know what you're dealing with. Like many high-functioning women, I wasn't diagnosed until I was an adult – hundreds of thousands of us in the UK alone were missed, simply because no-one had defined how it presents in girls. Because of this, assessment services for adults are becoming more available, and of course they're not limited to women.

I decided to ask my GP how best to proceed with getting an assessment. She suggested I write a one-page potted history of the difficulties I experienced as a child and an adult; she passed that the our local autism service, who then invited me for an appointment. I hope you're able to get some answers.

 

[SmokinJoeFraz93]

Thanks for the reply guys. I am awaiting an assessment for autism, but it may take a while on the NHS (in the UK). I had a major mental breakdown at aged 15, and looking back, it was definitely to do with massive changes in my life (i.e, sexual exploration/relationships, work, etc etc).

I was thinking I was onto something tasty then, but perhaps not. Thanks again

 

[SmokinJoeFraz93]

Also, if you're interested in understanding your autism better. Look for a recent article on an animal model where the discovery of hyperplasticity was made. There is some evidence that autism involves hyperplasticity, hypersensitivity and hyperactivity in the brain stem. I can look for the article if you are interested.

Hi, thanks for your reply. I really appreciate it. Now this has got my attention. I’m intrigued to know what sort of symptoms one would see with hyperplasticity in the brain stem? I have researched the studies - however, I don’t know if it’s the study that you are relating to.

Cheers.

 

[kurt]

Hi, thanks for your reply. I really appreciate it. Now this has got my attention. I’m intrigued to know what sort of symptoms one would see with hyperplasticity in the brain stem? I have researched the studies - however, I don’t know if it’s the study that you are relating to.

The hyperplasticity study was in a mouse model of autism, I believe it was published recently, in 2019. The finding was that creating hyperplasticity in the brainstem led to autism like behaviors. They created that condition with mice bred with a missing gene that controls neuroplasticity, producing a hyperplastic condition in certain neurons in the cerebellum. The authors observed resulting hyperactivity and hypersensitivity in the brain. Which then appears to create an autism like condition in the mice. I will try to find the article.

 

[kurt]

Here is the article:

https://www.jneurosci.org/content/39/13/2383

 

[southwestforests]

Ahh, I was wondering how many of us might be here. So far, no study of my genes has been done. But a new health care provider is being seen soon ...