Published in Biomolecules, the study is the first catalogue of microRNA, tRNA, piRNA, snoRNA and snRNA changes in a CDD model.
Led by postdoctoral researcher Bilal El-Mansoury, the study used small RNA sequencing of hippocampal tissue from 12-week-old heterozygous Cdkl5 exon 6 deletion mice. The findings show that loss of this single gene has an extensive impact on the non-coding transcriptome, and two microRNAs, miR-200c-3p and miR-384-3p, were validated as dysregulated. The work was supported by Research Ireland, the Loulou Foundation through the University of Pennsylvania Orphan Disease Center, CDKL5 UK and CDKL5 Alliance groups in Italy and Ireland.