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 Does anyone have an RAI1 mutation? 
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Joined: Mon Sep 30, 2013 11:16 pm
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Post Does anyone have an RAI1 mutation?
So I found after trying to figure out what my results meant, I found my way to agmatine and the agmatine transporter hMATE1. hMATE1 is located at 17p11.2 and is one of the deletions in Smith Magenis Syndrome. I then found I have a pattern of Smith Magenis Syndrome symptoms happening in me and my family (not the developmental delay).

I noticed that PEMT is also found at 17p11.2 which would explain my responsiveness to supplements containing phosphatidylcholine and DHA and a ceremide up-regulator. PEMT connects to homocystine which links to my serine result via cystathionine B-synthase, precisely explaining my abnormal serine when I take B vitamins and its normalisation off the vitamins.

I found 17p11.2 is the location of P53 which regulates P5CS which I previously concluded was probably down-regulated in me. 17p11.2 is the location of PMP22 and a defect in PMP22 causes peripheral neuropathy with liability to pressure palsies. I have been diagnosed with peripheral neuropathy and I get pressure palsies.

So I went looking for what regulates gene expression at 17p11.2 and I found that, as I understand it, RAI1 does, which is also located at 17p11.2. I suspected I could have a defect at 17p11.2. I then found the paper linking the RAI1 location to Parkinson's.

So do I have an RAI1 defect? I guess I will have to find out. Does anyone have one? If you do, I would like to hear from you to compare symptoms and information. My family has a history and Parkinson's and dementia connected to delusional psychosis or symptoms of Parkinson's and dementia connected to delusional psychosis.


Fri Sep 05, 2014 6:34 am
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