Exploratory analysis of L1 retrotransposons expression in autism.
Giovanni SpiritoMichele FilosiEnrico DomeniciDamiano MangoniStefano GustincichRemo SangesPublished in: Molecular autism (2023)
L1 upregulation in ASD appears to be limited to a subset of subjects that are also characterized by a general deregulation of the expression of canonical genes and an increase in intron retention. In some samples from the anterior cingulate cortex, L1s upregulation seems to directly impair the expression of some ASD-relevant genes by a still unknown mechanism. L1s upregulation may therefore identify a group of ASD subjects with common molecular features and helps stratifying individuals for novel strategies of therapeutic intervention.
Keyphrases
- poor prognosis
- autism spectrum disorder
- long non coding rna
- intellectual disability
- attention deficit hyperactivity disorder
- cell proliferation
- genome wide
- signaling pathway
- randomized controlled trial
- binding protein
- functional connectivity
- genome wide identification
- working memory
- bioinformatics analysis
- transcription factor