Re: Mutations/new on the list

[Guest guest]

Hello all from Spain.

After lurking some time and learning so much from this list (not writing

because is difficult for me in English and I had not any important things to

say), I will try to contribute in some questions.

I am the father of a 12 yo girl, Olaia, with cf, and a 15 yo boy, Alvaro,

without. Olaia is doing great till now. She has deltaF508 and g542x.

From what I understand Torin has three mutations: a CFTR gen with two

mutations in one chromosome and one in the other. They don't know witch two

are together and witch alone. That is why they want to study their parents.

One of his mutations is y913x, a stop mutation. That means that gentamicin

could correct the genetic defect. Olaia is on inhaled gentamicin since eight

months ago (in some Spanish hospitals the protocol includes long term

inhaled-gentamicine to prevent pseudomonas colonization). Well I can say

that from the first moment we clearly noticed how the lungs were working

better (much less coughing, and now eight months without a cold). The

problem of the gentamicine are the side effects (possible kidney damage). It

is known that when inhaled the side effects are much lower, but nobody knows

the effect of genta when given during years. For the moment we follow on.

There are some ongoing studies (Cleveland and Jerusalem) about genta, and

looking for any substance with the same effects on

the gene than gentamicin but less side effects.

Salva

[Guest guest]

Salva,

Thank you for the great explanation. Thank you to your daughter

also, for her participation in the gentamicine study.

It was nice to hear from you.

Gale

> Hello all from Spain.

> After lurking some time and learning so much from this list (not

writing

> because is difficult for me in English and I had not any important

things to

> say), I will try to contribute in some questions.

> I am the father of a 12 yo girl, Olaia, with cf, and a 15 yo boy,

Alvaro,

> without. Olaia is doing great till now. She has deltaF508 and g542x.

>

> From what I understand Torin has three mutations: a CFTR gen with

two

> mutations in one chromosome and one in the other. They don't know

witch two

> are together and witch alone. That is why they want to study their

parents.

> One of his mutations is y913x, a stop mutation. That means that

gentamicin

> could correct the genetic defect. Olaia is on inhaled gentamicin

since eight

> months ago (in some Spanish hospitals the protocol includes long

term

> inhaled-gentamicine to prevent pseudomonas colonization). Well I

can say

> that from the first moment we clearly noticed how the lungs were

working

> better (much less coughing, and now eight months without a cold).

The

> problem of the gentamicine are the side effects (possible kidney

damage). It

> is known that when inhaled the side effects are much lower, but

nobody knows

> the effect of genta when given during years. For the moment we

follow on.

> There are some ongoing studies (Cleveland and Jerusalem) about

genta, and

> looking for any substance with the same effects on

> the gene than gentamicin but less side effects.

>

> Salva