-An undergraduate from Illinois
May 9, 2017
Thank you for your question! I’ll try to answer it up front for you, but you can find a full explanation below.
People like you with one copy of H63D (“heterozygotes”) are at a higher risk for certain neurodegenerative diseases. But not by much.
Usually you need to also have another mutation, like C282Y, to be at a higher risk for hereditary hemochromatosis.
And even these people don’t get it for sure. They are at a much higher risk, but not everyone with both H63D and C282Y ends up with the disease.
It might be a bit surprising that H63D turned up as a risk factor for neurodegenerative diseases.
How can a somewhat wonky iron system make getting a neurodegenerative disease like ALS more likely?
Scientists don’t know the answer to this question just yet. But they have a few theories…
And there are actually a bunch of genes that makes sure we have just the right amount of iron in our bodies. This last set of genes includes an important one called HFE.
The HFE gene helps humans control iron levels by detecting the amount of iron in our bodies. It uses this information to control another gene called HAMP.
Very fascinating, but what does this have to do with H63D? Well, H63D describes a very specific mistake, a mutation, in the HFE gene.