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Nonsense Mutations

anonymous

New member
Does anyone have a nonsense mutation? I have a young son with CF and he has a nonsense and then the delta f508. I was just curious how it has effected others. I do know that you really shouldn't compare CF mutations since every case is different, but humor me please. I would really like to know. Thanks!
Carrie
 

Allie

New member
My husband had a nonsense mutation....w1282x. What did you want to know about it particularly? And Yes, there is a study going on in ISrael with nonsense mutations.
 

Allie

New member
A nonsense mutation is a class one mutation, it shuts down the CFTR protien to the biggest extent in the body, whereas other classes are missense mutations, and are disabled in other ways.

In biology, a nonsense mutation means it doesn't get replaced, and a misense means it gets replaced with something different, I think.
 

princessjdc

New member
I have two non sense mutations, they are the same G542X. Their is a study I think it is something like Ptc124 Something like that, you can find a search on here and find it.
 

Allie

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.clinicaltrials.gov/ct/show/NCT00237380;jsessionid=BC704F93C065406A07A7A7E7F0F833E0?order=8">PC124 in Israel</a>
 

BaylorCrew07

New member
I have a nonsense mutation...G542X i think is the one I have...the other one is R117H (I think). The second one is a rare mutation, so my CF is "mild" i guess (PFTs 115%) for the time being.
 

anonymous

New member
Hi BaylorCrew07

I have the same mutations as you. Can I ask how old you are? Were you diagnosed as a child or adult? Do you have any digestive problems? You sound like you are in great shape. Good to hear.

Charlene
33/cf
 

anonymous

New member
My son has a nonsense mutation and was involved in the PTC124 study in Birmingham Al- there are 4 sites in the US doing the study as well as in Israel- he finished the study in December. He has had more sinus trouble than lung- I would call his lung and digestive involvement mild and his sinus involvement moderate. He is soon to be 21 and is working full time and going to school also. Please write back with any more questions. Susan
 

anonymous

New member
I have delta F508 and G542x had a transplant at 36. I would say that my cf was mild to moderate for twenty something years then turned moderate then severe.
Risa
 

dyza

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>BaylorCrew07</b></i>

I have a nonsense mutation...G542X i think is the one I have...the other one is R117H (I think). The second one is a rare mutation, so my CF is "mild" i guess (PFTs 115%) for the time being.</end quote></div>

I don't have a nonsense mutation, but I also have R117H and R117H, and no ,I havent made a mistake.
 

Emily65Roses

New member
To build on what Allie said, there are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different base. Every three are read together, to make different amino acids. For example, GTA (after the RNA process) makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.

Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.

Substitution mutations are when one letter gets changed for another. So GTACGCA would become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.

Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to <i>(CGT) Alanine and (ACG) Cysteine</i>. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to <i>(GAC) Leucine and (GCA) Arginine</i>.

There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.

I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.
 

dyza

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

To build on what Allie said, there are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different amino acids. Every three are read together, to make different bases. For example, GTA (after the RNA process) makes a base called Histidine. The CGC makes a base called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.
go over that again for me


Substitution mutations are when one letter gets changed for another. So GTACGCA would become GCACGCA, changing the GTA to GCA, which changes the base from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every protein down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the proteins from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two proteins from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the bases in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>
 

Emily65Roses

New member
Craig, I don't know if you were going to ask a question, but I mixed two words when explaining all that junk. Base and amino acid. I had to go back and edit to change them. So keep that in mind and reread my post if you wish to ask something. Sorry about that. Heh.
 

princessjdc

New member
I know I posted earlier, but I never got the chance to tell ya how my health is... My pfts is 82% right now, last hospitalization was 2nd grade do to something with my ankle (non cf), picc line in 03 and 04 and that is it. I feel great, somedays my chest feels funny but I think it's because of Tobi. That goes away, but in all, Im what I would say have a mild case of CF. I also have psuedomonas, and I think that is the only thing I am cultured with right now.
 

anonymous

New member
My son has deletion of exon 2 & 3, anyone know about this one? Emily??? The other is the deltaf508. I carry the deletion of exon 2 & 3, my husband the deltaf508. Just wondering if anyone else carries this other gene?

Mom to 3 1/2 yr old son w/cf
 

Emily65Roses

New member
Ahh sorry. I know I sounded all smart in that last post (hah!), but I don't know anything about the exon 2 and 3 thing you mentioned. I know Delta is a deletion mutation, if that helps any.
 

anonymous

New member
Emily I was counting on you knowing this after your educated writing. I've never heard anyone talk about having my son's gene. Wish I could blame the weirdness on my husband, but this one's all mine!!!!

Mom to 3 1/2 yr old son w/cf
 
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