PTC124 (Ataluren)
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<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i>
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i>
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i>
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote></div>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i>
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote>
Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i>
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<br />hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote>
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<br />Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
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<br />hey ymikhale, my doc is one of the ones working on the study at UNC and he told me that PTC124 *would* be applicable to me (if it works of course....) but steve said it wouldn't work? not sure what to think about that.....</end quote>
<br />
<br />Yup, this is a class V splicing mutation, but there is a word "stop" in there which also made me think that PTC 124 would work. But Steve was assured me that this is not the case. Maybe I should repost the question for Steve. Thanks for the reply, jaimers
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tgbaker
Guest
Jamie, did you ever find out if Ataluren will help your mutation 3849 +10kb c->t??? I also have this mutation. Thanks!!
threebabies
Member
I am also interested to see how everyone did with trial. Please let us know.
Gina
Mom to Sophia 4 w/cf, Peter & Gavin 3 w/cf (DF508 & PY849X)
Gina
Mom to Sophia 4 w/cf, Peter & Gavin 3 w/cf (DF508 & PY849X)
CyrilCrodius
New member
<div class="FTQUOTE"><begin quote><em>Originally posted by: <strong>ymikhale</strong></em> <div class="FTQUOTE"><begin quote><em>Originally posted by: <strong>jaimers</strong></em> I go to UNC and they are doing the PTC124 trials there. I'm still trying to see if I can figure out my schedule with work and if it will all be able to coordinate without me loosing my job for being out too many days to make all the study visits....I have a stop mutation (3849+10kbC->T) which is what I was told PTC124 is for so i'm really hoping to work it out! My clinic said they could probably work with me and schedule night and weekend appointments so i can do it. super excited
</end quote> My daughter has the same mutation: I asked Steve at ambry about whether PTC 124 will work for it (since this mutation contains an in-frame stop codon, between exons 19 and 20) and he said no.
![face-icon-small-sad.gif" border="0](http://i/expressions/face-icon-small-sad.gif" border="0)
b/c it is an itronic mutation. Do let me know if you find out more, since I kind of reconciled myself to the idea that we will have to wait for VX 809 (she has d508 on the other allele)</end quote>
It is odd... are they sure?
It sounded like Ataluren would help ignoring premature UGA stop codons no matter how they arose... which means the mutation causing the stop codon wouldn't matter as long as the resulting premature stop codon is a UGA stop codon. A biochemistry student told me that Ataluren should work on other mutations that result in a premature UGA stop codon for that reason.
621+1G>T being one of them.
It is odd... are they sure?
It sounded like Ataluren would help ignoring premature UGA stop codons no matter how they arose... which means the mutation causing the stop codon wouldn't matter as long as the resulting premature stop codon is a UGA stop codon. A biochemistry student told me that Ataluren should work on other mutations that result in a premature UGA stop codon for that reason.
621+1G>T being one of them.
CyrilCrodius- in theory I would agree- if there is a premature stop codon in the mRNA (due to either splicing or a nonsense mutation), then Ataluren should in theory be able to help the ribosome to ignore the premature stop codon (I believe it should not matter how the premature stop codon gets there, either way the mRNA has a premature stop codon, and the ribosome stops translating the protein at that point). There are three types of stop codons, and I've read that Ataluren works best with the UGA sequence, so this might make a difference. Hopefully they do clinical trials with these splicing mutations that lead to stop codons, so we can see if there is an improvement.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jaimers</b></i> I go to UNC and they are doing the PTC124 trials there. I'm still trying to see if I can figure out my schedule with work and if it will all be able to coordinate without me loosing my job for being out too many days to make all the study visits....I have a stop mutation (3849+10kbC->T) which is what I was told PTC124 is for so i'm really hoping to work it out! My clinic said they could probably work with me and schedule night and weekend appointments so i can do it. super excited <img src=""></end quote>
3849+10kb C->T is <strong>Class V</strong>splicing CFTR mutation. It's an insertional mutation resulting in an elongated messenger RNA, containing an in-frame premature UAA stop codon.
This mutation has been shown to produce both correctly and aberrantly spliced CFTR transcripts containing an additional cryptic exon.
This studyhttp://ajrccm.atsjournals.org/content/182/10/1262.long shows that a CFer with 3849+10kb C->Tresponded to Ataluren.
3849+10kb C->T is <strong>Class V</strong>splicing CFTR mutation. It's an insertional mutation resulting in an elongated messenger RNA, containing an in-frame premature UAA stop codon.
This mutation has been shown to produce both correctly and aberrantly spliced CFTR transcripts containing an additional cryptic exon.
This studyhttp://ajrccm.atsjournals.org/content/182/10/1262.long shows that a CFer with 3849+10kb C->Tresponded to Ataluren.
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cfsucks
Guest
<div class="FTQUOTE"><begin quote> This studyhttp://ajrccm.atsjournals.org/content/182/10/1262.long shows that a CFer with 3849+10kb C->Tresponded to Ataluren.</end quote>
so wait a second- ataluren has the potential to correct splice mutations as well?
so wait a second- ataluren has the potential to correct splice mutations as well?
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>cfsucks</b></i> <div class="FTQUOTE"><begin quote> This studyhttp://ajrccm.atsjournals.org/content/182/10/1262.long shows that a CFer with 3849+10kb C->Tresponded to Ataluren.</end quote> so wait a second- ataluren has the potential to correct splice mutations as well? </end quote>Class 1 contains nonsense mutations (end in X) and also splicing that results in a stop codon. Some splicing mutations are class 5 as they have some correct protein (so the amount of correct protein determines if they are considered class 1 or 5). When 3849 is spliced incorrectly a stop codon can be produced, so that is why it was trialled with Ataluren. This study just looked at 2 patients who had 3849, looking at the response in the nose.
3849 is considered class 5 as it is still has some correctly made protein.A large study looking at splicing mutations with stop codons and Ataluren has not been conducted yet, so we cannot say yet if there will be an improvement.
3849 is considered class 5 as it is still has some correctly made protein.A large study looking at splicing mutations with stop codons and Ataluren has not been conducted yet, so we cannot say yet if there will be an improvement.
StevenKeiles
New member
This string was just recently brought to my attention. There seems to have been some misunderstanding I would like to clear up. Yes the 3849+10kb mutation is one of the non X mutations that will work with Ataluren.
The typical stop mutation is any mutation that ends in an X. This mutation is in addition to the usualy types of stop codon mutations.
For those of you with this mutation, you should check with your doctors.
Good luck to everyone and sorry for the confusion,
Steve
The typical stop mutation is any mutation that ends in an X. This mutation is in addition to the usualy types of stop codon mutations.
For those of you with this mutation, you should check with your doctors.
Good luck to everyone and sorry for the confusion,
Steve
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tgbaker
Guest
This is great news!! Thanks Steven.
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cfsucks
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>StevenKeiles</b></i> This string was just recently brought to my attention. There seems to have been some misunderstanding I would like to clear up. Yes the 3849+10kb mutation is one of the non X mutations that will work with Ataluren. The typical stop mutation is any mutation that ends in an X. This mutation is in addition to the usualy types of stop codon mutations. For those of you with this mutation, you should check with your doctors. Good luck to everyone and sorry for the confusion, Steve </end quote>
does <span class="st"><em>1717</em>-<em>1G-->A </em>also fall in this category?
does <span class="st"><em>1717</em>-<em>1G-->A </em>also fall in this category?