I received Genetic testing results back and I’m a carrier of two POLG variants. The genoc counseling is six months out and I don’t even have a basic understanding of what it is.
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POLG genes code for an enzyme called polymerase γ. That’s used to replicate mitochondria. Mitochondria, as we all know, is the powerhouse of the cell.
Dysfunctional or non-functional mitochondria = less energy for cells to do their thing.
POLG is a gene for DNA polymerase y, the polymerase that is specifically responsible for repairing DNA damage in your mitochondria (yes, your mitochondria has its own DNA). You’re carrying a variant of that gene, but you don’t have anything to worry about unless that variant encodes for a non-functional version of the POLG gene.
Everybody has the POLG gene, and the DNA polymerase gamma protein that it encodes. Mutations in specific parts of the gene lead to changes in corresponding parts of the protein (it’s proteins that actually do things in a cell).
Different mutations are linked to very different clinical outcomes. People on here can’t tell you what any results are likely to mean without that information. Though if it were me, I would neither want to put that info on a public forum, nor trust random strangers (well-meaning or not) to correctly interpret it.
At the very least, if your doctor has scheduled a clinical geneticist’s appointment 6 months away, and you generally trust them, you are probably fine to wait that long.
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