ContributorsPublishersAdvertisers

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Nature.com
 2022-01-28

Cover picture for the articleEuropean Journal of Human Genetics (2022)Cite this article. Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated families with intellectual disability (ID) and a novel...

www.nature.com

Comments / 254

Lindsey Grace Horton Hoskins
01-28

you do realize they're trying to do gene therapy for specific intellectual disabilities, heart and brain? just because they're using RDNA doesn't mean it has anything to do with the vaccine. they used the RDNA in the vaccine as a way to replicate DNA in order to make the vaccine in the first place. it's also used in insulin, gene therapy, and clotting for hemophilia. please know what you're even remotely what you're talking about before you post.

Reply(42)
70
Darryen Watson
01-29

Using Exome sequencing, scientists found the gene SMG9 had a variant causing heart/brain problems. Scientists compared heart/brain function to that of age/sex matched individuals with normal versions of the gene vs variants. They ran RNA sequencing & allele-specific expression analysis on these people to assess whether the NMD mechanism was faulty & found no evidence that it was. When they used differential gene expression analysis they identified prevalent upregulation of several genes in studied patients. With these comparisons, they noted mild to moderate changes between those with the variant, & prove SMG9 c.551T > C causes a neurodevelopmental disorder & impacts gene expression, but not by affecting the NMD pathway. The findings suggest that normal SMG9 function may be involved in transcriptional regulation without affecting NMD function. Therefore, the studied abnormalities with the varient gene are caused by misregulation of mRNA/RNA transcriptions and not a faulty NMD mechanism

Reply(7)
23
mischa♥️mochi
01-29

This is a GENETIC defect, meaning FROM BIRTH and has absolutely NOTHING to do with any vaccine, let alone the covid vaccine. Jesus Christ.

Reply(2)
14

Comments / 0