[nickvalo]

I recently started exploring the genetics angle more thoroughly using my mom's 23andme raw data. It turns out she has the A1298C mutation, which can interfere with the recycling of tetrahydrobiopterin (BH4), which is an essential cofactor in converting l-tyrosine to l-dopa. BH4 also detoxes ammonia from the body, which also ties into johnt's recent posting about high levels of ammonia in PWP. Having this particular mutation likely means that you have a reduced level of BH4, but not low enough to trigger classic PKU (Phenylketonuria).

For those with their genetic data available, you can check the rs1801131 SNP (single nucleotide polymorphism). If you have CC genotype, then you have this mutation in the MTHFR (methylenetetrahydrofolate reductase) gene.
[http://www.snpedia.com/index.php/Rs1801131]

There are other SNPs that are relevant to the MTHFR gene, which relates to the metabolism of folate, and is critical to dopamine generation (and of course other important biosyntheses).
[http://www.snpedia.com/index.php/MTHFR]

A couple of good links for this dicussion:

http://www.detoxpuzzle.com/bh4.php

http://www.cnsspectrums.com/userdocs...7Stahl2big.jpg

I wanted to share this with the group to:
1. See if others can check their 23andme or other genetic data and see if there is a common pattern amongst PWP.

2. Start a discussion with all the well-informed members of the group about ways to address this inefficiency in the folate metabolic cycle.