mthfd1 mutations

Alzheimer's, cardiovascular, and other chronic diseases; biomarkers, lifestyle, supplements, drugs, and health care.
adriana268
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mthfd1 mutations

Postby adriana268 » Tue Oct 12, 2021 7:21 am

hello! I recently completed a 23 and me genetic analysis and found I have a mutation in my mthfd1 (and PEMT) that predisposes me to choline deficiency. Seeing that acetylcholine is essential for sleep, emotional well being and has an important role in alzheimer, I was wondering if anyone here takes choline supplementation, has the gene or has more information of this connection. I can't seem to find much online. I've always suffered from sleep issues and some mental fog so I am wondering if this is related

HNorthrup
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Re: mthfd1 mutations

Postby HNorthrup » Tue Oct 12, 2021 9:56 am

In Julian Whitaker, MD's natural health newsletters back in 2003 and 2005, he stated that, if we can't get enough choline from our diet (e.g., chicken breast, salmon, eggs), he recommended taking phosphatidylcholine or alpha-GPC instead of choline. Here's an excerpt:

"...to ensure optimal intake, nothing beats choline supplements. The best of these is phosphatidylcholine
(PC), a water-soluble form that is easier on the gastrointestinal tract than straight choline. There’s a new form
of PC called alpha-glycerylphosphorylcholine (alpha-GPC) that is actually the neurons’ preferred form of choline.
When levels of acetylcholine are low, PC in the cell membranes is broken down into alpha-GPC, which is then used
to create acetylcholine. Supplementation with PC has been shown in many studies to improve choline metabolism,
boost brain levels of acetylcholine, and improve alertness, information processing, and other measures of
cognitive function. In addition to protecting against age-related cognitive impairment, GPC also helps mitigate the devastating effects of brain trauma, stroke, and Alzheimer’s."

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Re: mthfd1 mutations

Postby ro.oconnor » Tue Oct 12, 2021 3:25 pm

adriana268 wrote:hello! I recently completed a 23 and me genetic analysis and found I have a mutation in my mthfd1 (and PEMT) that predisposes me to choline deficiency. Seeing that acetylcholine is essential for sleep, emotional well being and has an important role in alzheimer, I was wondering if anyone here takes choline supplementation, has the gene or has more information of this connection. I can't seem to find much online. I've always suffered from sleep issues and some mental fog so I am wondering if this is related


HNorthrup wrote:In Julian Whitaker, MD's natural health newsletters back in 2003 and 2005, he stated that, if we can't get enough choline from our diet (e.g., chicken breast, salmon, eggs), he recommended taking phosphatidylcholine or alpha-GPC instead of choline. Here's an excerpt:

"...to ensure optimal intake, nothing beats choline supplements. The best of these is phosphatidylcholine
(PC), a water-soluble form that is easier on the gastrointestinal tract than straight choline. There’s a new form
of PC called alpha-glycerylphosphorylcholine (alpha-GPC) that is actually the neurons’ preferred form of choline.
When levels of acetylcholine are low, PC in the cell membranes is broken down into alpha-GPC, which is then used
to create acetylcholine. Supplementation with PC has been shown in many studies to improve choline metabolism,
boost brain levels of acetylcholine, and improve alertness, information processing, and other measures of
cognitive function. In addition to protecting against age-related cognitive impairment, GPC also helps mitigate the devastating effects of brain trauma, stroke, and Alzheimer’s."


Hello HNorthrup and andriana268,

Thank you for your contributions regarding sleep and choline. The ApoE4.Info community is glad to have you both here! I hope that you are finding a wealth of information and the supportive community helpful. HNorthrup, since this is your first post, I'd like to welcome you by highlighting a few features of the website that might be useful to you.

You both may be interested in using the search tool and our Wiki section to find more information about sleep and choline. The search tool is located in the top right-hand side of the webpage and can be accessed by selecting the magnifying glass icon next to your username. There is also a Wiki section on sleep 4.6 which is pertinent to your topic.

You may also find the Primer helpful, as it includes researched-based prevention strategies.

Additionally, you may want to check out the How-to Guide which includes tricks and tips for getting the most out of the discussion forums. For example, when replying to a post, begin by selecting the quotation mark icon in the top right-hand corner of the post that you are replying to. That way, the original poster will be notified of your reply.

And finally, if you would like to browse the stories of other members, check out Our Stories. If you are comfortable in doing so, feel free to share your own!

I hope you will continue to find the site helpful on your health journey. If there is anything else you want to know and can't find it on the site, please don't hesitate to reach out!

Warmly,
Rosanne
ro.oconnor
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Re: mthfd1 mutations

Postby DistinguishedHeathen » Sun Oct 24, 2021 5:45 pm

adriana268 wrote:hello! I recently completed a 23 and me genetic analysis and found I have a mutation in my mthfd1 (and PEMT) that predisposes me to choline deficiency. Seeing that acetylcholine is essential for sleep, emotional well being and has an important role in alzheimer, I was wondering if anyone here takes choline supplementation, has the gene or has more information of this connection. I can't seem to find much online. I've always suffered from sleep issues and some mental fog so I am wondering if this is related


Hello, hello! I, too have this mutation, which I discovered when I decided to investigate why my Botox injections would set in overnight (when I would told they would take about a week). As it turns out, Botox works by preventing the release of acetylcholine. I extrapolated from this that I must not have much acetylcholine in my system and then asked my husband (who is a geneticist at NYU) to see if I had any genes that might affect acetylcholine -- that's when he found the mutation.

I began taking CDP choline daily, and by the time I got my next Botox injection, I had clearly corrected my deficiency because it took nearly a week for the Botox to take effect -- so long I assumed I must have gotten a bad batch.

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Re: mthfd1 mutations

Postby adriana268 » Mon Oct 25, 2021 6:21 am

thank you so much for your reply ! is there a reason you take CDP choline as opposed to phosphatidyl choline ? how much are you taking. I can't find any guidance online

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Re: mthfd1 mutations

Postby SusanJ » Mon Oct 25, 2021 11:42 am

adriana268 wrote:is there a reason you take CDP choline as opposed to phosphatidyl choline ? how much are you taking. I can't find any guidance online


I am homozygote for both snps, along with other choline pathway genes that don't work quite right, and honestly don't take either. I try to eat adequate amounts of choline and let my body sort out where the choline is needed. That said, my main symptom of choline problems is high homocysteine, which can be reduced by taking trimethylglycine (TMG).

I've tried CDP-choline and alpha-GPC and both make me way too buzzed. Phosphatidylcholine makes me depressed if I take it for too long.

If you try CDP-choline, start at 250 mg and see how it affects you. You could also take just choline (cheaper) if you're not getting enough choline in your diet and see how that plays out.

Here's an old post with lots of good info about choline metabolism, and a followup worth reading.

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Re: mthfd1 mutations

Postby DistinguishedHeathen » Tue Oct 26, 2021 3:58 pm

adriana268 wrote:thank you so much for your reply ! is there a reason you take CDP choline as opposed to phosphatidyl choline ? how much are you taking. I can't find any guidance online


I started taking CDP because there's some evidence that it's more easily converted to acetylcholine than PD. Depending on if I eat eggs that day, I take either 250 mg (if I have eggs) or 500mg a day.


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