The first genetic mutation I’m referring to is: the Val158Met polymorphism.
The COMT gene encodes catechol-O-methyltransferase, an enzyme that breaks down synaptic dopamine (DA) and norepinephrine (NE). The best studied polymorphism of the COMT gene is a single G>A substitution at codon 158 (rs4680), resulting in a valine (Val) to methionine (Met) amino acid change. This Val158Met polymorphism results in a decrease in COMT enzymatic activity, which can be described in a trimodal pattern for three genotypes: high in Val/Val, intermediate in Val/Met, and low in Met/Met. Reduced COMT activity results in less catecholamine degradation and can lead to increased baseline levels of synaptic DA/NE.
The Val158Met polymorphism (rs4680) in the COMT gene can affect baseline levels of synaptic catecholamines.
The second genetic mutation I’m referring to is the -1438G>A polymorphism for the Serotonin Receptor Type 2A.
When I’ve typed the name for this mutation into search engines and looked it up, a lot of the time I find research articles and studies discussing a different type of mutation involving the Serotonin Receptor Type 2A. I’ve found studies on the 102T/C polymorphism and how it may interact with other mutations to affect a person’s risk of developing or having panic disorder.
Are these mutations commonly found together? What are they associated with when they are found together? I know that the Val158Met genetic mutation has been extensively studied, but I’m curious as to how someone would be affected if they had both of these mutations together, especially because the Val158Met mutation seems to be associated with a lot of problems.
I’m aware how it would affect someone would vary widely by genotype. How would it affect someone if they have 2 copies of the Met allele (referring to the Val158Met) and are homozygous for the G allele referring to the other mutation?
Any information is appreciated.
Sources for the information about the Val158Met mutation:
https://genesight.com/white-papers/get-to-know-a-gene-comt/