ΔF508

I spoke with the doctor today about the cystic fibrosis carrier result from my blood sample. Daddy will hopefully go early next week to have blood drawn as well so they can test him for the gene. I was able to ask the doctor if they knew the specific mutation I carry, and she told me it's the most common mutation, Delta-F508.

In the meantime, I've done a little more research and learned a few interesting things. According to Wikipedia: "The CFTR protein—when in the proper position—opens channels in the cell membrane which release chloride ions out of the cells. This causes osmosis to draw water out of the cell. The ΔF508 mutation can prevent the CFTR from moving into its proper position in the cell." Another source mentioned that being a carrier does mean that one half of that complete gene pair doesn't work, but that the "healthy" gene is enough to allow the body to function without creating problems.

Interestingly, there is also some benefit to being a carrier. According to Wikipedia: "Being a heterozygous carrier (having a single copy of ΔF508) results in decreased water loss during diarrhea. This prevents dehydration, and vastly increases the chances of surviving cholera. This same effect may occur during Typhoid Fever, leading to heterozygote advantage and an increase in the frequency of this mutation." So I guess I'll have to remember that next time I've got the runs! Another study I came across had found what appeared to be a link between carriers of Delta-F508 (in Italian and Scottish populations specifically), and a lower incidence of Chron's disease (incidentally, something my Uncle Donald -- my mom's brother -- was diagnosed with a few years ago).

Also very interesting was that clubbed fingers can be a symptom of cystic fibrosis. I mentioned earlier that I have clubbed thumbs. I didn't mention that my index and middle fingers on both hands are also a little "wide and flat" compared to my pinkie and ring fingers (and the fingers of other people) -- not nearly to the extent of my thumb though. So, that makes me wonder if possibly the clubbed thumbs and the CF carrier gene are somehow related?