I know it's not important...

ktsmom · Oct 13, 2007

I read the title of your post, and then your question, and I had to smile. Yes, some folks will tell you not to make a "big deal" out of what the mutations are, but TRUST ME we ALL care and it IS important if you are the mamma!

Sorry I don't have any specific information for you, and I agree it is hard to understand the articles in the scientific journals.

I found this basic information that has been REALLY helpful in my understanding of what the mutations mean. Very basically, there are four things the CFTR gene is supposed to do: Produce the CFTR protein; Fold the protein in a particular way so that its shape allows it to be transported to the cell membrane; once on the cell membrane it is Regulated by certain chemical signals; and there it Conducts chloride out of the cell.

The classes of mutations (I through IV) correspond to which of the above parts is not functioning properly. So if you could find out what class the mutations are you would be one more step closer to understanding. Good luck and keep researching! You are the best advocate for your child! But that seems hard to do in CF world, in my humble opinion, without having a masters in microbiology, which I don't, so I'm just muddling through.

ktsmom · Oct 13, 2007

I read the title of your post, and then your question, and I had to smile. Yes, some folks will tell you not to make a "big deal" out of what the mutations are, but TRUST ME we ALL care and it IS important if you are the mamma!

Sorry I don't have any specific information for you, and I agree it is hard to understand the articles in the scientific journals.

I found this basic information that has been REALLY helpful in my understanding of what the mutations mean. Very basically, there are four things the CFTR gene is supposed to do: Produce the CFTR protein; Fold the protein in a particular way so that its shape allows it to be transported to the cell membrane; once on the cell membrane it is Regulated by certain chemical signals; and there it Conducts chloride out of the cell.

The classes of mutations (I through IV) correspond to which of the above parts is not functioning properly. So if you could find out what class the mutations are you would be one more step closer to understanding. Good luck and keep researching! You are the best advocate for your child! But that seems hard to do in CF world, in my humble opinion, without having a masters in microbiology, which I don't, so I'm just muddling through.

ktsmom · Oct 13, 2007

I read the title of your post, and then your question, and I had to smile. Yes, some folks will tell you not to make a "big deal" out of what the mutations are, but TRUST ME we ALL care and it IS important if you are the mamma!

Sorry I don't have any specific information for you, and I agree it is hard to understand the articles in the scientific journals.

I found this basic information that has been REALLY helpful in my understanding of what the mutations mean. Very basically, there are four things the CFTR gene is supposed to do: Produce the CFTR protein; Fold the protein in a particular way so that its shape allows it to be transported to the cell membrane; once on the cell membrane it is Regulated by certain chemical signals; and there it Conducts chloride out of the cell.

The classes of mutations (I through IV) correspond to which of the above parts is not functioning properly. So if you could find out what class the mutations are you would be one more step closer to understanding. Good luck and keep researching! You are the best advocate for your child! But that seems hard to do in CF world, in my humble opinion, without having a masters in microbiology, which I don't, so I'm just muddling through.

ktsmom · Oct 13, 2007

I read the title of your post, and then your question, and I had to smile. Yes, some folks will tell you not to make a "big deal" out of what the mutations are, but TRUST ME we ALL care and it IS important if you are the mamma!

Sorry I don't have any specific information for you, and I agree it is hard to understand the articles in the scientific journals.

I found this basic information that has been REALLY helpful in my understanding of what the mutations mean. Very basically, there are four things the CFTR gene is supposed to do: Produce the CFTR protein; Fold the protein in a particular way so that its shape allows it to be transported to the cell membrane; once on the cell membrane it is Regulated by certain chemical signals; and there it Conducts chloride out of the cell.

The classes of mutations (I through IV) correspond to which of the above parts is not functioning properly. So if you could find out what class the mutations are you would be one more step closer to understanding. Good luck and keep researching! You are the best advocate for your child! But that seems hard to do in CF world, in my humble opinion, without having a masters in microbiology, which I don't, so I'm just muddling through.

ktsmom · Oct 13, 2007

I read the title of your post, and then your question, and I had to smile. Yes, some folks will tell you not to make a "big deal" out of what the mutations are, but TRUST ME we ALL care and it IS important if you are the mamma!

Sorry I don't have any specific information for you, and I agree it is hard to understand the articles in the scientific journals.

I found this basic information that has been REALLY helpful in my understanding of what the mutations mean. Very basically, there are four things the CFTR gene is supposed to do: Produce the CFTR protein; Fold the protein in a particular way so that its shape allows it to be transported to the cell membrane; once on the cell membrane it is Regulated by certain chemical signals; and there it Conducts chloride out of the cell.

The classes of mutations (I through IV) correspond to which of the above parts is not functioning properly. So if you could find out what class the mutations are you would be one more step closer to understanding. Good luck and keep researching! You are the best advocate for your child! But that seems hard to do in CF world, in my humble opinion, without having a masters in microbiology, which I don't, so I'm just muddling through.

JazzysMom · Oct 13, 2007

I also have to agree with Dana about the title. Although I dont think you should put your eggs in one basket about the typical characteristics associated with a mutation, I do believe they are important.

I think of knowing your mutations like knowing your blood type. You never know when that information would come in handy!

Use it as a tool once you find the info just like anything else with CF. Its often a combo of things not just one specific!

HUGS

JazzysMom · Oct 13, 2007

I also have to agree with Dana about the title. Although I dont think you should put your eggs in one basket about the typical characteristics associated with a mutation, I do believe they are important.

I think of knowing your mutations like knowing your blood type. You never know when that information would come in handy!

Use it as a tool once you find the info just like anything else with CF. Its often a combo of things not just one specific!

HUGS

JazzysMom · Oct 13, 2007

I also have to agree with Dana about the title. Although I dont think you should put your eggs in one basket about the typical characteristics associated with a mutation, I do believe they are important.

I think of knowing your mutations like knowing your blood type. You never know when that information would come in handy!

Use it as a tool once you find the info just like anything else with CF. Its often a combo of things not just one specific!

HUGS

JazzysMom · Oct 13, 2007

I also have to agree with Dana about the title. Although I dont think you should put your eggs in one basket about the typical characteristics associated with a mutation, I do believe they are important.

I think of knowing your mutations like knowing your blood type. You never know when that information would come in handy!

Use it as a tool once you find the info just like anything else with CF. Its often a combo of things not just one specific!

HUGS

JazzysMom · Oct 13, 2007

I also have to agree with Dana about the title. Although I dont think you should put your eggs in one basket about the typical characteristics associated with a mutation, I do believe they are important.

I think of knowing your mutations like knowing your blood type. You never know when that information would come in handy!

Use it as a tool once you find the info just like anything else with CF. Its often a combo of things not just one specific!

HUGS

ktsmom · Oct 13, 2007