Research on SOD1 in SALS

[bkite]

Sorry for the negative news. The question of the role of SOD1 in SALS was just linked in the ALS Association newsletter.
https://alsadotorg.wordpress.com/20...sletter&utm_medium=email&utm_campaign=may2017

 

[AKNate]

Re: Fals sod1

Thanks so much for the link.

"As expected, we validated the presence of misfolded SOD1 aggregates in neurons of mutant SOD1 patients. However, none of the other tissues including sporadic, familial (non-SOD1) ALS or control patient tissues (cortex, cervical, thoracic or lumbar spinal cord) revealed the presence of misfolded SOD1."

If I'm reading that correctly, it means SOD1 is inherited.

 

[Nikki J]

Thanks Bkite
I made this a separate thread so it can be seen.

AKNate I think that the point of this is that PALS without an identifiable SOD1 mutation that shows in genetic testing( usually inherited but rarely de novo) did not have detectable misfolded sod1 on autopsy in their study. There had been a question that it might in previous studies which is why the Biogen antisense trial was set up with a single dose arm for SALS

It does not address how those with SOD1 mutations got them but I think de novo is supposed to be very rare indeed in SOD1