'An important piece of the puzzle': Scientists discover why gene mutation leads to autism

[erek]

Hopefully this is of a meaningful discovery.

"Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development

Variants in the ANK3 gene encoding ankyrin-G are associated with neurodevelopmental disorders, including intellectual disability, autism, schizophrenia, and bipolar disorder. However, no upstream regulators of ankyrin-G at synapses are known. Here, we show that ankyrin-G interacts with Usp9X, a neurodevelopmental-disorder-associated deubiquitinase (DUB). Usp9X phosphorylation enhances their interaction, decreases ankyrin-G polyubiquitination, and stabilizes ankyrin-G to maintain dendritic spine development. In forebrain-specific Usp9X knockout mice (Usp9X –/Y), ankyrin-G as well as multiple ankyrin-repeat domain (ANKRD)-containing proteins are transiently reduced at 2 but recovered at 12 weeks postnatally. However, reduced cortical spine density in knockouts persists into adulthood. Usp9X –/Y mice display increase of ankyrin-G ubiquitination and aggregation and hyperactivity. USP9X mutations in patients with intellectual disability and autism ablate its catalytic activity or ankyrin-G interaction. Our data reveal a DUB-dependent mechanism of ANKRD protein homeostasis, the impairment of which only transiently affects ANKRD protein levels but leads to persistent neuronal, behavioral, and clinical abnormalities."

https://www.usatoday.com/story/news...-why-gene-mutation-leads-disorder/2615730001/

 

[Zarathustra[H]]

...and by gene mutation, we mean vaccines.

 

[filip]

1 in 59 children have been diagnosed with autism. Really?
I'm sure what ever they found will not be used or come to market.

 

[GoldenTiger]

1 in 59 children have been diagnosed with autism. Really?
I'm sure what ever they found will not be used or come to market.

It's overdiagnosed nowadays, I believe.

 

[dgz]

It's overdiagnosed nowadays, I believe.

Or it's finally being properly diagnosed. 1 in 59 sounds reasonable when you remember autism is a pretty wide spectrum. Don't count just the worst cases

 

[GoldenTiger]

Or it's finally being properly diagnosed. 1 in 59 sounds reasonable when you remember autism is a pretty wide spectrum. Don't count just the worst cases

True, true. I tend to forget that.

 

[IndyColtsFan]

...and by gene mutation, we mean vaccines.

Yeah, I know I’m looking forward to Jenny McCarthy’s peer review of this paper.

 

[Smoked Brisket]

Or it's finally being properly diagnosed. 1 in 59 sounds reasonable when you remember autism is a pretty wide spectrum. Don't count just the worst cases

Your both right, but 1 in 59 sounds accurate.

 

[Zarathustra[H]]

Yeah, I know I’m looking forward to Jenny McCarthy’s peer review of this paper.

Just to be excruciatingly clear, everyone knows that wasn't a serious comment, right?

 

[IndyColtsFan]

Just to be excruciatingly clear, everyone knows that wasn't a serious comment, right?

Lulz - you mean EVERYONE doesn't look forward to Jenny's expert scientific analysis?