Misfolded SOD1 is not a SALS issue after all

[Nikki J]

https://rd.springer.com/article/10.1007/s00401-017-1688-8

Some of you may remember there was a SALS arm to the SOD1 gene blocking trial. This explains why and what they found

 

[KarenNWendyn]

Maybe not misfolded SOD1 in sALS, but I’m sure other misfolded proteins will be identified over time.

 

[Nikki J]

Of course TDP-43 is an example found in a lot of SALS and FALS. It would have been nice though if SOD1 was implicated as the antisense might have helped some SALS. All indications are that the trial is going very well with SOD1

 

[AKNate]

Does this mean that all SOD1 are FALS?

 

[Nikki J]

That is a different issue People with the SOD1 mutation are almost always inherited but there can be de novo mutations. These are not inherited but once a person has it they can pass it to their offspring ( a 50/50 chance). Someone with a de novo mutation has just as much chance of benefiting from SOD1 gene blocking as they would if it had been inherited