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Mutation linked to both Chronic Sinusitis and Cystic Fibrosis

By maynard in MLP
Thu Oct 12, 2000 at 02:00:03 PM EST
Tags: Science (all tags)
Science

Sinusitis, as defined by the Mayo Clinic, is an infection or inflammation of the sinus cavity which can lead to infection of the facial bones and even meningitis and/or a brain abscess. Recently, Johns Hopkins researchers reported that there appears to be a genetic link between suffers of chronic sinusitis and Cystic Fibrosis, more commonly known as CF.


CF operates because of a genetic mutation in the gene that produces a protein called CFTR, which is codes at least partly for mucus. According to this research, a mutated CFTR protein will generally produce a more salinated and thicker mucus, thereby more easily blocking passageways in the sinus cavity and respiratory tract. Because of the higher salination, a better environment for bacterial infections exists.

This is an important finding because if you and your spouse BOTH experience chronic sinus infections, it might make sense to consider getting a CF genetic test before having children. Also, it's a great example of how individual genes often work across phenotypic expression. That is, one gene which expressed dominantly happens to cause one ailment, can cause little to no ailment or a less significant ailment when expressed recessivly. Another good example of this is Sickle Cell Anemia, an ailment often found among peoples descended from Africa, which turns out to have the beneficial outcome of protecting against Malaria when expressed ressessivly.

This is MLP, intended to just spark some interesting debate. However, I am not a geneticist; those with knowledge in the field please correct any factual errors.

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Mutation linked to both Chronic Sinusitis and Cystic Fibrosis | 6 comments (6 topical, editorial, 0 hidden)
Consider what insurance companies might do... (2.66 / 3) (#1)
by SIGFPE on Thu Oct 12, 2000 at 12:43:43 PM EST

...with this information.

Consider this story from the UK. Might UK insurance companies choose to charge you more money for family health insurance should you choose to marry a sinusitis sufferer?
SIGFPE
Well, at least... (1.50 / 4) (#2)
by el_guapo on Thu Oct 12, 2000 at 01:04:35 PM EST

most "survivor watching Americans" neeed not worry about the "and/or a brain abscess" part (OK, it was a cheap shot, I couldn't resist)
mas cerveza, por favor mirrors, manifestos, etc.
Genetic diseases and parasite reisistance (4.25 / 4) (#3)
by YellowBook on Thu Oct 12, 2000 at 01:26:55 PM EST

The mention in the writeup of sickle-cell anaemia is actually very appropriate to CF. If you are a carrier (heterozygous) for sickle-cell, you don't have symptoms, but you are protected (somewhat) from the parasite that causes malaria. I seem to recall reading that something similar had been suggested for CF -- that being heterozygous for CF provides (some) protection from tuberculosis. The immune system's normal response to the bacteria that cause tuberculosis is to wall them off, making hard "tubercules" in the lungs. The bacteria are trapped, and the disease becomes dormant, which is why tuberculosis is usually a chronic disease. In people who are have one copy of the CF gene, the thicker mucus they produce assists in walling off the tuberculosis bacteria.



How many people would chg their decisions? (3.50 / 4) (#4)
by El Volio on Thu Oct 12, 2000 at 01:27:07 PM EST

That is, if you knew that you and your spouse carried these sorts of genes, would you change your decisions to have a family? Would you just reduce the number of planned children? Would you avoid having children altogether? I'm not saying one position is right or wrong; I've not thought about this in any great deal.

But I am curious what other people have thought about this. My initial reaction is to say, "Let's have kids anyway; there's always a chance something will be wrong." And many parents who have children with various problems still say that they wouldn't have changed their decision, that their child is every bit as valuable and precious to them as a child without those problems would be.

OTOH, there's a case to be made for deciding to have fewer or no children in that case. Seems to me that my wife and I might be better off not knowing, to accept what happens at birth. Or are there things that can be done to avoid these problems if you know in advance that there's a predisposition for them? I wouldn't think so, but I'm not a genetics expert, either.



CF is a slow deadly illness... (3.00 / 2) (#5)
by maynard on Thu Oct 12, 2000 at 01:43:13 PM EST

which primarily affects children. The disease costs a family dearly in both health care costs and mental anguish, plus it's downright torture for the afflicted.

I won't speak for everyone. Some people wouldn't abort a fetus even with Downs Syndrome, or other severe genetic ailments, so for those who are morally and ethically opposed to abortion under all circumstances I doubt you would see those folks change their minds in this situation. Most other people would probably abort the fetus as soon as they found out.

Now that's for the extreme example of a woman carrying a CF positive fetus, not someone who just happened to carry the ressesive gene and is prone to Sinusitus.

Cheers,
--Maynard

Read The Proxies, a short crime thriller.
[ Parent ]

CFTR gene test not recommended. (2.00 / 3) (#6)
by your_desired_username on Thu Oct 12, 2000 at 07:55:38 PM EST

it might make sense to consider getting a CF genetic test

Hm? From the report you linked to:

we don't recommend that everyone with chronic sinus problems get their CFTR genes tested



Mutation linked to both Chronic Sinusitis and Cystic Fibrosis | 6 comments (6 topical, 0 editorial, 0 hidden)
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