Old 01-22-2017, 09:02 PM #1
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Default How does fALS work?

How does fALS work? I know with fALS you inherit a defective gene. That gene normally codes a protein that performs a function. The defective gene in fALS mis-codes the protein and causes a vital process to malfunction. Is that basically how it works?

Assuming it works like I described above, how come people with fALS don't get symptoms of ALS right away? (like, from birth) It's my understanding some people with fALS who inherit a defective gene may never show symptoms of ALS. What's up with that?

I know I'm asking a simple question about an extremely complicated process. It may be the case that scientists with PhDs in genetics are wondering the same thing. If anyone has ever had a doctor or scientist provide them with any insight, I'd be interested in hearing what they had to say.

Rob
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Old 01-22-2017, 11:58 PM #2
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Default Re: How does fALS work?

Much more complicated that this - there are a variety of FALS genes and they all cause ALS differently.

Having a genetic disposition is different to having a disease - and this goes for any disease, not just ALS.

I know that doesn't completely answer you, but there is loads of scientific research online you can read up - start with the 2 most commonly talked about SOD1 and C9ORF72 and you will see immediately how differently these 2 genetic issues go about causing ALS.

Hope that helps a little
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Old 01-23-2017, 12:13 AM #3
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Default Re: How does fALS work?

This is a really good video that might help explain things better: https://www.alsconsortium.org/for-pe...testing-in-als

It was sent to me by Nikki from this forum
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Old 01-23-2017, 08:10 AM #4
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Default Re: How does fALS work?

Hi
The short answer is they really don't know all of those things. There are studies going on to try to figure this out and I strongly encourage people who are FALS and their adult relatives to try to participate. There is a study at UMass where the PALS and selected relatives can mail in blood and information. I would check with Northwestern too. UMiami has a longterm study for asymptomatic gene carriers and they will test first degree relatives if the gene is documented. If we want scientists to understand FALS we need to give them something to work with.

Tillie is correct that the mechanisms are different for different mutations and discovering the mutation does not mean they understand why it makes us ill. They have to study it and it can take years to figure it out. C9 is now believed to be an RNA and a lack of function issue so there can be multiple issues.

To share what I have been told about why we are not immediately affected- a couple of doctors have said that our bodies must somehow repair until they can't but I was at the MNDA in 2015 and a lab researcher presented a THEORY that to age successfully there are a series of biochemical processes that have to happen at various times and FALS mutations may disrupt the process at one stage or other

Penetrance varies among mutations. They don't know why. My doctor and others have said they wonder if some people are genetically programmed to resist ALS ( as some people are with HIV, getting infected but never clinically ill). If this is true identifying the factor could help us all

I will add to your questions why do some families ( like mine) have different onset ages and different presentations? They don't know yet

Last edited by Nikki J : 01-23-2017 at 10:04 AM
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