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Re: Stop mutations

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This is a good site explaining stop mutations, gentamicine therapy and the

new meds (PTC124) they are testing:

http://www.ptcbio.com/discovery1-gen.html

Salva.

> Ola Salva,

> Thanks for your answer...I was completely lost until now about this stop

mutation....now I am a little bit less lost....I will do some research...do

u know any good site on the internet for me to start?? Or books?

anything??...

> how the getamicin could correct the genetic defect??

> The reason we haven't had the Ambry test is coz it would be around 1000

dollars and now we just don't have it....

> gotta go now...Torin just woke up...

>

> val

> ps: it is difficult to write in english to me too...my first language is

portuguese

>

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Salvador, thank you so very much!

n Rojas

Re: Stop mutations

> This is a good site explaining stop mutations, gentamicine therapy and the

> new meds (PTC124) they are testing:

> http://www.ptcbio.com/discovery1-gen.html

>

> Salva.

>

> > Ola Salva,

> > Thanks for your answer...I was completely lost until now about this stop

> mutation....now I am a little bit less lost....I will do some

research...do

> u know any good site on the internet for me to start?? Or books?

> anything??...

> > how the getamicin could correct the genetic defect??

> > The reason we haven't had the Ambry test is coz it would be around 1000

> dollars and now we just don't have it....

> > gotta go now...Torin just woke up...

> >

> > val

> > ps: it is difficult to write in english to me too...my first language is

> portuguese

> >

>

>

>

> -------------------------------------------

> The opinions and information exchanged on this list should IN NO WAY

> be construed as medical advice.

>

> PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR

TREATMENTS.

>

> ------------------------------------

>

>

>

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  • 3 months later...
Guest guest

The following came from a news broadcast, channel 8 in Austin, TX.

This is a plain English explanation:

" In 10 percent of CF patients, there is a premature mutation that

causes a stop in the formation of a protein. Scientists say a gene is

like a sentence that begins with a capital letter and ends with a

period.

When the gene is properly formed, a full length, functional protein

is formed. In patients with an X mutation, there is a premature stop

in the middle of the sentence, and the protein is not properly

formed. "

> Could anyone explain to me what these are?

>

> Joe

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Wow-that was great. Not confusing & very to the point, or even still to

the 'X "

Thanks for shaing .

LOVE & HUGS, grandmomBEV

Re: " stop " mutations

The following came from a news broadcast, channel 8 in Austin, TX.

This is a plain English explanation:

" In 10 percent of CF patients, there is a premature mutation that

causes a stop in the formation of a protein. Scientists say a gene is

like a sentence that begins with a capital letter and ends with a

period.

When the gene is properly formed, a full length, functional protein

is formed. In patients with an X mutation, there is a premature stop

in the middle of the sentence, and the protein is not properly

formed. "

> Could anyone explain to me what these are?

>

> Joe

-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR

TREATMENTS.

------------------------------------

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http://content.nejm.org/cgi/content/short/349/15/1433 - best I could

do, hope this helps, n; at least it is from a very reliable source!

" stop " mutations

Could anyone explain to me what these are?

Joe

-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

------------------------------------

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Guest guest

Old, but accurate, and by two of the discoverers of the gene; thank

you--besides all my genetic stuff is there! Appreciatively, n Rojas, who

does know the answer to your question, but the list would

probably collapse under the detail; maybe someone can find a shorter

version! n

Re: " stop " mutations

One thing that confuses me. Stop mutations are often directly

treated as synomous with Class I function mutations. My unborn

daughter has the 1717-1G->A mutation which is a splice junction

defect but still falls into the Class I grouping. For some reason,

they just lump Class I as a group when mentioning using Gentamycin to

create a " pass through " effect for stop mutations. Does anyone know,

micro-biologically speaking, a reason why Gentamycin would not work

for other Class I mutations like frameshift and splice junction?

A good site for more technical explanations.

http://www.hosppract.com/genetics/9706gen.htm

> > Could anyone explain to me what these are?

> >

> > Joe

-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

------------------------------------

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Guest guest

Woo Hoo! Finally found someone with our mutations. First off, I have

read some of your messages and I think your doctor SUCKS! I

recommend trying to find another CF center.

About our mutations, I think they are the same, the 1G->A is the

splice mutation component of the description and 1717 is the location

of the mutation.

I do not think this testing applies, would like to know for sure,

because I have seen other articles about using Gentamycin as a

passthrough mechanism for other diseases and they treated splice

mutations and stop mutations as two different entities.

> In a message dated 3/8/2004 10:21:07 AM Central Standard Time,

> bcweston3@y... writes:

> 1717-1G->A

> my girls carry 1717-1G-7A si this the same mutation? And are you

saying that

> the medication will work on this mutation? Deb A

>

>

>

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My daughter has a different splice mutation and her doc explained to me that

splice mutations are often lumped in with the class 1 mutations, even though

they are not quite class one mutations. it is more like between a class 1 and

class 2. I don't think that the med would apply to most splice mutations and

maybe not even to all stop mutations? Just from my understanding of what the

doc explained.........

Re: " stop " mutations

Woo Hoo! Finally found someone with our mutations. First off, I have

read some of your messages and I think your doctor SUCKS! I

recommend trying to find another CF center.

About our mutations, I think they are the same, the 1G->A is the

splice mutation component of the description and 1717 is the location

of the mutation.

I do not think this testing applies, would like to know for sure,

because I have seen other articles about using Gentamycin as a

passthrough mechanism for other diseases and they treated splice

mutations and stop mutations as two different entities.

> In a message dated 3/8/2004 10:21:07 AM Central Standard Time,

> bcweston3@y... writes:

> 1717-1G->A

> my girls carry 1717-1G-7A si this the same mutation? And are you

saying that

> the medication will work on this mutation? Deb A

>

>

>

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Oh No. I was hoping it did mean that it would work for all stop

mutations. Just our luck, Zach has a rare stop mutation. I was so

hoping he caught a break. Only time will tell I guess.

Sara

I don't think that the med would apply to most splice mutations and

maybe not even to all stop mutations? Just from my understanding of

what the doc explained.........

>

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Guest guest

Tune in next week for the latest developments, however; things ARE

changing! Love, n Rojas

Re: " stop " mutations

Oh No. I was hoping it did mean that it would work for all stop

mutations. Just our luck, Zach has a rare stop mutation. I was so

hoping he caught a break. Only time will tell I guess.

Sara

I don't think that the med would apply to most splice mutations and

maybe not even to all stop mutations? Just from my understanding of

what the doc explained.........

>

-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

------------------------------------

------------------------------------------------------------------------------

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In a message dated 3/9/2004 1:31:44 PM Central Standard Time,

bcweston3@... writes:

Were

either of your girl preemies?

NO my oldest was a couple of days early and my youngest was 9 days late. Well

I am glad to hear that they are screen pregnancies!! I never had that option.

I think my oldest would have any damage to her lungs at all if we were

detected earlier. It is not much they say it is the size of an eraser of a

pencil.

But I wish she wouldn't have suffer as much as she did because I know she had

terrible tummy aches as a baby but the doctors would do anything about it they

would tell me to try this or that but nothing worked. So you tell you wife to

keep giving those prescreens for CF. Deb A

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It sounds like you are doing pretty well. Is your oldest daughter on

glutathione too? I hope she got rid of that Pseudonomas.

My wife's OBGYN for 2 years now (after our first daughter was born

without CF) has been prescreening for CF on all of his pregnant

moms. We were the first to test positive. It was very difficult

because they tested my wife. Two weeks later she came back a

carrier. Then I was tested, two weeks later I came back a carrier.

We then had to wait two week before the fetus could be tested and

then we had to wait three weeks to get those results. It all made me

very mad they didn't have the patient in mind when they laid out

their testing procedure but now I am glad we found out before hand.

It has given us a chance to prepare. She is do July 15th. Were

either of your girl preemies?

> In a message dated 3/9/2004 10:10:35 AM Central Standard Time,

> bcweston3@y... writes:

> Brad, Blythe, Birgess (no CF), and Baby on the way

> We just found out that I carry the 1717-1G-7A and my husband

carries the

> Delta F508. I got it from my mother who got it from her mother. I

found out that

> my Grandmothers sister had a daughter that had a son with CF that

died at 23

> from complication from a lung transplant. We still have not found

CF on my

> husband side. I am Irish and German and my husband is mostly German

I think he

> might have some Irish in him to but not sure I will have to ask him

about that. I

> do know that Attig is very German. those name are not familiar on

my side but

> I will have to go through my hubbies family history book and see if

there are

> any of those names in his history. My grandmothers last name was

Yeggy and my

> Great Grandparents name was Wadle.

> Our daughters are doing pretty well they are 11 w/cf, 10 wo/cf, and

6 w/cf.

> My oldest fights with polyps a lot and has pseudomonas in her nose

and we can't

> seem to get rid of it so we are constantly doing treatment to

prevent

> pseudomonas from getting into her lungs. My youngest hasn't been on

treatment since

> the being of the fall. We have been trying the glutathione so I

don't know if

> that is why she has had such a good winter. But it is the only

thing we have

> done differently. My oldest just went into clinic yesterday to see

if the

> pseudomonas is still there so I will let you know how that goes

when we fight out.

> How far along is your wife? And how did you find out your new baby

has CF all

> ready? My oldest was 6 when she was diagnosed and my youngest was

1. Deb A

>

>

>

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