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-   -   Genetic and methylation profile (https://www.neurotalk.org/peripheral-neuropathy/214894-genetic-methylation-profile.html)

aneczka 01-16-2015 05:09 PM

Genetic and methylation profile
 
Just received preliminary results of my genetic screening. My methylation profile shows some mutations, actually a lot of them. Two homozygous, which are supposed to be more serious, and a lot of heterozygous. Can anyone help with analysing them? The information I received is a bit overwhelming, since it is all new to me. A quick, superficial read suggests I may have issues with vitamines D3, B12 and methylfolate.

madisongrrl 01-16-2015 09:46 PM

Quote:

Originally Posted by aneczka (Post 1118719)
Just received preliminary results of my genetic screening. My methylation profile shows some mutations, actually a lot of them. Two homozygous, which are supposed to be more serious, and a lot of heterozygous. Can anyone help with analysing them? The information I received is a bit overwhelming, since it is all new to me. A quick, superficial read suggests I may have issues with vitamines D3, B12 and methylfolate.

One really good podcast is by a group of functional medicine doctors at The Center for Bio-individualized Medicine. You can find it on iTunes or can steam it from their website. They have lots of information on reading and interpreting your 23andme genetic profile; they have talked extensively about methylation. You could also goggle methylation on iTunes and see if other podcasts. Good luck.

mrsD 01-17-2015 04:20 AM

So you will have to add methylfolate to your supplements
And raise your B12 to 5 mg a day at least.

aneczka 01-17-2015 08:53 AM

Exactly, methylfolate was what I am thinking of.

aneczka 01-17-2015 08:54 AM

Thanks; can you please send me the url of their website, with that podcast?

aneczka 01-17-2015 08:57 AM

Interestingly enough, it also shows a mutation which makes me vulnerable to celiac disease/ gluten sensitivity, and also some vitamine D absorption issues. I'll get them both tested.

mrsD 01-17-2015 09:08 AM

Good thing you got the testing... now you can work around the mutations perhaps and regain some lost functions.

If you have Celiac and don't know it, you could be malabsorbing many other nutrients. So going gluten free may be a good idea, too.

aneczka 01-17-2015 09:11 AM

Been doing that already, but not very religiously. Now I have a reason to be systematic about it.

aneczka 01-17-2015 09:17 AM

That spells no more eating out so much :( Which is not a good news, because cooking with two bad hands is a pain in the .. hands. Can anyone recommend a good cooking book for going gluten-free?

Joano 01-17-2015 03:08 PM

There are a lot of sites on line for gluten free, and many restaurants are now offering a gluten free menu to accommodate their patrons. Both Sam's and Costco offer a variety of GF these days. It's a lot easier to be GF today than just a short time ago.

mrsD 01-17-2015 05:21 PM

Yes, I did gluten free for 3 yrs almost a decade ago...

But there is really no GF bread like real bread... it is very hard to give that up. A good baguette..how one can long for that!

Buckwheat pasta and Tinkyada are good... but it is difficult to find buckwheat around here. Only one store 1/2 hr away. Tinkyada is a bit easier to find though. When we get the buckwheat we buy 3 or more packages... as Amazon is too expensive for it.

Lara 01-17-2015 05:53 PM

Hi there. I just read your posts about the gluten free products. I hope you don't mind my adding on here. :)

My daughter and I went gluten free for a while due to some health issues she was having and we hoped that doing this would help. Her problems appeared to be more a sensitivity than something like Celiac.

It did help with some issues and certainly her skin cleared well when going gluten free but just be aware when buying prepackaged "GF" products that often they have a lot of other things in them that are not so good. Most of the prepackaged GF foods on our supermarkets in my area are full of sugar we noticed. No idea why it's like that. Doesn't make sense.

From our online investigations prior to doing all that, we came to the conclusion that the US has a much better range of actually healthy GF shelf foods.

The range here has been very small too although I've noticed in this past year there must be way more demand and companies are introducing much better products all of a sudden.

There are lots and lots of GF recipes and hints and advice on our Gluten Sensitivity and Celiac Disease Forum here.
http://neurotalk.psychcentral.com/forum13.html

It's a complex business going GF. Almost every product in our bathroom even had things in it that we were meant to avoid if doing the diet correctly. It's more of a life style change than a diet. ;)

cyclelops 01-17-2015 08:12 PM

I had my genome run by 23andme before the FDA stopped them from doing all the tests. Best $99 I ever spent. They are negotiating with the FDA and hoping they can once again offer this feature. I truly learned a boatload about my body including drug intolerances, and other issues I have. (3x more likely to have Celiac, alpha actinin deficiency, myoadenylate deaminase deficiency...)

The problem is most doctors are not set up to work with genome data. :/ Especially if it is a LOT of data which I got from 23andme. Now they just do ancestry, but, you can still get medical data by running your genome thru 23andme, downloading your data to your computer, and then running it thru Promethease for free. You do need a bit of medical knowledge to interpret it all tho.

Marie33 01-18-2015 01:20 AM

[QUOTE=aneczka;1118719]Just received preliminary results of my genetic screening. My methylation profile shows some mutations, actually a lot of them. Two homozygous, which are supposed to be more serious, and a lot of heterozygous. Can anyone help with analysing them? The information I received is a bit overwhelming, since it is all new to me. A quick, superficial read suggests I may have issues with vitamines D3, B12 and methylfolate.

Hi aneczka
How were you able to get genetic screening? Is that the same as getting a genetic blood work-up? Did your health Ins help pay for it?
Does your Doctor think these mutation problems could be responsible for your neuropathy?

madisongrrl 01-21-2015 08:51 PM

Quote:

Originally Posted by aneczka (Post 1118719)
Just received preliminary results of my genetic screening. My methylation profile shows some mutations, actually a lot of them. Two homozygous, which are supposed to be more serious, and a lot of heterozygous. Can anyone help with analysing them? The information I received is a bit overwhelming, since it is all new to me. A quick, superficial read suggests I may have issues with vitamines D3, B12 and methylfolate.

It looks like I can't post links yet. I promise I will once I get to 10 posts.

madisongrrl 01-21-2015 08:57 PM

Quote:

Originally Posted by mrsD (Post 1118861)
Yes, I did gluten free for 3 yrs almost a decade ago...

But there is really no GF bread like real bread... it is very hard to give that up. A good baguette..how one can long for that!

Buckwheat pasta and Tinkyada are good... but it is difficult to find buckwheat around here. Only one store 1/2 hr away. Tinkyada is a bit easier to find though. When we get the buckwheat we buy 3 or more packages... as Amazon is too expensive for it.

We have been gluten free for years and only have gluten free bread as a treat every now and again. My husband is very picky as he is a chef, but we have found a bread that is excellent. It is called Canyon Bakehouse. They are a company out of Colorado and we enjoy their mountain white product.

madisongrrl 01-21-2015 09:02 PM

Quote:

Originally Posted by aneczka (Post 1118792)
Thanks; can you please send me the url of their website, with that podcast?

http://www.drjessarmine.com/radio-show/
Look for "How to read your 23andme...without going crazy!!!!" - Part I and II, "MTHFR & Methylation...What is the big deal!!?! A primer", and "Ask the Methylation Experts!!Open Mic Night". They also talk about running your raw data from 23andme through other programs to gain new information about your genetic profile. Lots of great info in their podcasts that might be of interest to individuals who visit this message board.

Also Power Health Talk:
http://powerhealthtalk.com/periphera...nt-options.htm They also have other podcasts on things like small fiber neuropathy and fibro.

Joano 01-21-2015 09:27 PM

We agree on the bread. The only one I buy now (and I've tried about all the others) is the 7 Grain from Canyon Bakehouse. And it's much better toasted. The Whole Foods in our area has 2 freezer shelves of their bread. They're not always full though; however, I've never found them completely out of stock.

Marlene 01-22-2015 08:30 AM

I like Sami's Bakery millet and flax bread....no sweeteners added. They also make a millet and flax pizza crust. And I agree, pretty much, all gluten free bread tastes better toasted.

mrsD 01-23-2015 10:49 AM

Hubby looked for my buckwheat spirals yesterday at Whole foods... no luck. Our store is not the typical huge store though...like Ann Arbor's for example.

But he did find a new cereal for me by Arrowhead Mills... a buckwheat maple flakes... and they are very very good and much less sweet than the Chex type GF. And they stay crunchy for a long time in milk. $4 for a small box though, but I don't eat cereal every day. Today he offered to go to the Mom and Pop health store that is farther away, and I know they have my pasta there.

I try to do gluten free now to lower my GI issues. It seems to work for that, but occasionally I do cheat...:o (at Panera).

aneczka 01-27-2015 05:48 PM

Hi Marie33, I paid myself to 23andme (look it up online), it was not too expensive. My new neuro didn't seem too interested, but he will test for one specific gene which seems to be very relevant in neurology, SMN1, I think to confirm my diagnosis and to exclude something.

aneczka 01-27-2015 05:52 PM

I was stupid enough to order my test from 23andme AMERICAN branch, with FDA restrictions in place, without checking if they operate in the UK also. They do, with no FDA. And I'm actually in Europe. I think my brain was fogged by everything related to my illness.

aneczka 01-27-2015 05:54 PM

mrsD, how much methylfolate would you take for every, say, 1000 mg of methylcobalamin? Would you take it with food? Got it today, but not sure what dosage makes sense.

mrsD 01-27-2015 07:07 PM

800mcg a day of the methylfolate to start. There are no food restrictions I know of for it.

The methylB12 requires empty stomach and no food after for about an hour.

And this explains your gene in more detail:
http://ghr.nlm.nih.gov/gene/SMN1

aneczka 01-28-2015 05:48 AM

They want to exclude SMA, so. ALS is fairly out of question in my case. I have pills of 1000 µg folate, so I will take one daily.


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