[ckayatek]

I'm a SOD1 researcher and my heart goes out to you and the many patients suffering with this terrible disease and their families. Though rest assured, we're working hard to uncover why this happens and what we can do about it.

I just wanted to clarify some points. I'm not sure what you mean about "the mutated gene". SOD1 mutations definitely cause ALS. It's just that there isn't a single SOD1 mutation that's responsible. Over 100 different mutations of the same gene can lead to the disease. Other genes are also implicated in ALS, such as TDP-43 and FUS. Sure there are other genetic factors responsible for ALS, many of which are yet unknown. But these are known factors.

I would be very hesitant to sequence my SOD1 gene to be honest. Let's say it came up with a new mutation. Not all mutations will lead to disease. So while this may not cause you to get ALS in the long run, it may lead to you worrying incessantly as you get older. Furthermore, most of these 100+ mutations have only been found in a single family or even a single patient. It's quite possible there are other genetic polymorphisms in these families that make these patients susceptible to their SOD1 mutations. Also there are examples of SOD1 mutations that aren't 100% penetrant. That is if you have the mutation, you aren't 100% guaranteed to get the disease. For instance, in scandinavian populations the aspartate 90 to valine mutation is recessive.

Basically there are a lot of complicating factors. Even if your SOD1 gene comes back as the normal sequence, you couldn't know you were safe. That is unless you knew that your grandfather and aunt actually had SOD1 mutations. Of course these are only my opinions as a scientist. I am not a physician.