NONSENSE MUTATIONS?

taylor10150

New member
I'm driving myself crazy here. My son (5) and daughter (3) have F508, and E60X. From what I have read, it's a nonsense mutation, but my doctor told me it's a stop codon. I'm really trying to find out if this new drug that's coming out will help...PTC 124 helps nonsense mutations. Does anyone have any insight? I'm so confused and feel like I need to be a scientist to help my kids. Thanks for any insight you have!

Christy
 

taylor10150

New member
I'm driving myself crazy here. My son (5) and daughter (3) have F508, and E60X. From what I have read, it's a nonsense mutation, but my doctor told me it's a stop codon. I'm really trying to find out if this new drug that's coming out will help...PTC 124 helps nonsense mutations. Does anyone have any insight? I'm so confused and feel like I need to be a scientist to help my kids. Thanks for any insight you have!

Christy
 

taylor10150

New member
I'm driving myself crazy here. My son (5) and daughter (3) have F508, and E60X. From what I have read, it's a nonsense mutation, but my doctor told me it's a stop codon. I'm really trying to find out if this new drug that's coming out will help...PTC 124 helps nonsense mutations. Does anyone have any insight? I'm so confused and feel like I need to be a scientist to help my kids. Thanks for any insight you have!

Christy
 

taylor10150

New member
I'm driving myself crazy here. My son (5) and daughter (3) have F508, and E60X. From what I have read, it's a nonsense mutation, but my doctor told me it's a stop codon. I'm really trying to find out if this new drug that's coming out will help...PTC 124 helps nonsense mutations. Does anyone have any insight? I'm so confused and feel like I need to be a scientist to help my kids. Thanks for any insight you have!

Christy
 

taylor10150

New member
I'm driving myself crazy here. My son (5) and daughter (3) have F508, and E60X. From what I have read, it's a nonsense mutation, but my doctor told me it's a stop codon. I'm really trying to find out if this new drug that's coming out will help...PTC 124 helps nonsense mutations. Does anyone have any insight? I'm so confused and feel like I need to be a scientist to help my kids. Thanks for any insight you have!
<br />
<br />Christy
 
T

Terry

Guest
Hi Christy,

I have read about that. Supposedly the PTC 124 will help with CF patients who have gene mutations ending in X. GOOD LUCK!

It won't help Marissa, but I am happy for the people it will help. One step at a time...

Terry
 
T

Terry

Guest
Hi Christy,

I have read about that. Supposedly the PTC 124 will help with CF patients who have gene mutations ending in X. GOOD LUCK!

It won't help Marissa, but I am happy for the people it will help. One step at a time...

Terry
 
T

Terry

Guest
Hi Christy,

I have read about that. Supposedly the PTC 124 will help with CF patients who have gene mutations ending in X. GOOD LUCK!

It won't help Marissa, but I am happy for the people it will help. One step at a time...

Terry
 
T

Terry

Guest
Hi Christy,

I have read about that. Supposedly the PTC 124 will help with CF patients who have gene mutations ending in X. GOOD LUCK!

It won't help Marissa, but I am happy for the people it will help. One step at a time...

Terry
 
T

Terry

Guest
Hi Christy,
<br />
<br />I have read about that. Supposedly the PTC 124 will help with CF patients who have gene mutations ending in X. GOOD LUCK!
<br />
<br />It won't help Marissa, but I am happy for the people it will help. One step at a time...
<br />
<br />Terry
 
M

Mommafirst

Guest
A stop codon is the same as a non-sense mutation from what I understand. The X represents that when reading the chromosome, the body stops at some point instead of finishing the sequence and thus doesn't create the necessary protein. From what I understand, and put in totally basic language, PTC124 will kinda "spell check" out the stop codon and thus force the body to read through it, essentially removing the effect of the non-sense mutation.
 
M

Mommafirst

Guest
A stop codon is the same as a non-sense mutation from what I understand. The X represents that when reading the chromosome, the body stops at some point instead of finishing the sequence and thus doesn't create the necessary protein. From what I understand, and put in totally basic language, PTC124 will kinda "spell check" out the stop codon and thus force the body to read through it, essentially removing the effect of the non-sense mutation.
 
M

Mommafirst

Guest
A stop codon is the same as a non-sense mutation from what I understand. The X represents that when reading the chromosome, the body stops at some point instead of finishing the sequence and thus doesn't create the necessary protein. From what I understand, and put in totally basic language, PTC124 will kinda "spell check" out the stop codon and thus force the body to read through it, essentially removing the effect of the non-sense mutation.
 
M

Mommafirst

Guest
A stop codon is the same as a non-sense mutation from what I understand. The X represents that when reading the chromosome, the body stops at some point instead of finishing the sequence and thus doesn't create the necessary protein. From what I understand, and put in totally basic language, PTC124 will kinda "spell check" out the stop codon and thus force the body to read through it, essentially removing the effect of the non-sense mutation.
 
M

Mommafirst

Guest
A stop codon is the same as a non-sense mutation from what I understand. The X represents that when reading the chromosome, the body stops at some point instead of finishing the sequence and thus doesn't create the necessary protein. From what I understand, and put in totally basic language, PTC124 will kinda "spell check" out the stop codon and thus force the body to read through it, essentially removing the effect of the non-sense mutation.
<br />
<br />
 

MargaritaChic

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

A stop codon is the same as a non-sense mutation from what I understand.</end quote></div>

Ditto to what Mommafirst said! <img src="i/expressions/face-icon-small-happy.gif" border="0">
 

MargaritaChic

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

A stop codon is the same as a non-sense mutation from what I understand.</end quote></div>

Ditto to what Mommafirst said! <img src="i/expressions/face-icon-small-happy.gif" border="0">
 

MargaritaChic

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

A stop codon is the same as a non-sense mutation from what I understand.</end quote></div>

Ditto to what Mommafirst said! <img src="i/expressions/face-icon-small-happy.gif" border="0">
 

MargaritaChic

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

A stop codon is the same as a non-sense mutation from what I understand.</end quote>

Ditto to what Mommafirst said! <img src="i/expressions/face-icon-small-happy.gif" border="0">
 

MargaritaChic

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Mommafirst</b></i>
<br />
<br />A stop codon is the same as a non-sense mutation from what I understand.</end quote>
<br />
<br />Ditto to what Mommafirst said! <img src="i/expressions/face-icon-small-happy.gif" border="0">
<br />
<br />
 
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