AI Helps Clarify Genetic Test Result

[nabus]

Driven by high doses of Levocarb, On a hunch, I went back to a genetic test (which dealt with Detoxification) result from 2009 that I received early in my diagnosis that was never clearly explained to me or properly documented as it turns out. It dealt with the COMT gene. What follows is the answer to my question which I eventually came to using AI to help me understand what I was reading. Essentially I have a genetic predisposition which was represented as this in my test result, ++COMTV158N and it affects how my body deals with dopamine.

I am posting with the hope that it my help other PWP who are looking for answers too.

I will be discussing this finding with my Neurologist in the coming weeks.

The notation "++COMT V158M" in a genetic test report generally refers to the presence of the Val158Met polymorphism in the COMT gene, with specific implications as follows:

1. **COMT Gene**: This indicates that the test is analyzing the catechol-O-methyltransferase (COMT) gene, which plays a role in the metabolism of catecholamines like dopamine.

2. **V158M Polymorphism**: The "V158M" portion specifies the polymorphism at amino acid position 158 of the COMT protein. The "V" stands for valine (the amino acid present in the Val allele), and "M" stands for methionine (the amino acid present in the Met allele).

3. **++ Sign**: The "++" symbol typically indicates that the individual carries two copies of the Val allele (homozygous for Val), suggesting that they have the Val/Val genotype. This genotype is associated with higher COMT enzyme activity and faster metabolism of catecholamines, including dopamine.

### Implications:

- **Higher Enzyme Activity**: Individuals with the Val/Val genotype generally have increased COMT activity, leading to lower levels of dopamine in the brain. This may affect the effectiveness of medications like Sinemet (levodopa/carbidopa).

- **Potential Treatment Considerations**: Such individuals might require higher doses of Sinemet or may benefit from adjunctive therapies, such as COMT inhibitors, to manage Parkinson's symptoms effectively.

It is advisable for the recipient of the report to discuss these findings with a healthcare provider or genetic counselor, who can provide more context and guidance on how this genetic information may impact their treatment options.

[Steegen]

I guess a low risk approach before trying pharma grade COMT inhibitors could be to try things like drinking green tea. I believe green tea has compounds in it like ECGC which have activity as COMT inhibitors.

[LAJ12345]

good luck getting doctors to take any notice with it. Ours are distinctly uninterested!

Look at your dopamine beta hydroxylase - I think this is also important as well as mthfr and maoa for my husband.

[bookish]

This is interesting and has been discussed here before. I do not have PD, but have the opposite COMT (slow, Met/Met), which is linked to pain conditions like fibromyalgia and difficulties clearing catechol oestrogens and other detox stuff. Magnesium helped me enormously as do the right forms of B vitamins - but as LAJ12345 says, you have to look at the overall picture as you can't treat for one SNP alone. Extra methyl groups should make me worse, but make me better - due to other SNPs on MTR, MAO, MTHFR etc The right B vits for you could help considerably. You may also have high homocysteine, so could check that. Cheers

[realk]

How you can find the right B vits?I have also my genome tested from 23andme...

[nabus in reply to realk]

you might try a Functional Medicine Doc. I haven’t yet but they have been recommended.