Mutated Genes April 2019

[Jean-Pierre Le Rouzic]

So this apply only to people with C9orf72 gene with long repeats. I am not sure there are so many people with such mutations. And somehow is it so strange that a highly disrupted genome gives a bad prognosis?

I also wonder how it explain the focality of ALS (it begins in one or two precise places), the progression and the fact the mostly only aging people get it?

If all diseases where explainable with genetics, we should get them at the latest after puberty, like for myopathies or SMA. We begin to biologically aging right after that (for ex. look to thymus involution).