"minor" mutations

C

candiebar76

New member
So I have heard reference to a "minor" mutation (I use the term loosely); is there such a thing? Do all mutations of CF end with the same result? Or do "minor" CFers live longer then other CFers? I don't understand this. The doctors say our son may have a "minor" mutation and that is why it has taken so long to be a concern. Have any of you that were diagnosed later in life received the same explanation?

Candace & Bill
3 healthy children
1 undiagnosed possible CFer
 
N

NoExcuses

New member
"minor

The old thinking was that there are more mild CF mutations that lead to milder CF.

However, looking at two patients with the exact same gene mutations, the latest thinking is that there are "modifier" genes that affect CF outcome.

Modifier genes are being studied, but some may include immune system genes, the way your body processes nutrients (which is part of CF but there are some non-CF related aspects as well), etc.
 
T

thelizardqueen

New member
"minor

Like Amy said, there are "mild" mutations of CF. CF genes are broken down into 5 classes. 1 being the least severe, and 5 being the most severe. I have two class 4 mutations (which is way worse then 1, but of course not as bad as 5), but yet I have "mild" CF. So I think a lot of it does have to do with "modifier" genes.
 
T

thelizardqueen

New member
"minor

Silly me, I got my numbers reversed for some dumb reason. 1 is the most severe, and 5 is the least severe. So I have two class 2 mutations. Duh.
 
A

anonymous

New member
"minor

There actually are "milder" mutations-- it all depends on just how the CFTR protein is affected. Some mutations end in destruction of the protein before it even reaches the surface of the cell. In other mutations, the protein makes it to the surface but doesn't function properly (the chloride channel doesn't stay open long enough, etc.).
Generally, people with semi-functional CFTR/chloride channels have a milder case.

Then there's all the gene modification stuff, but we'll have to wait for the scientists to unravel that one. ;D
 
K

KatieBugsMom

New member
"minor

<span style=" font-size: x-small;">well my daughter has
"mild" cf. does anyone know if the life expectancy is
different for people with "mild" cf and if so what is
it.<br>
<br>
<br>
I just would like you to know that this is my first reply and I
really enjoy reading all the advise that is given on this cite,
thank you so much.<br>
<br>
<br>
Katie's mom 11w/cf: D<br>
John 17 and Jesse 15 mom w/o cf
 
N

NoExcuses

New member
"minor

mild CF can turn into severe CF. So life expectancy can vary greatly....... CF is difficult to predict.
 
You must log in or register to reply here.
Top