From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.

ABSTRACT: 22q11.2 deletion syndrome (22q11.2DS) is the most prevalent microdeletion disorder, distinguished by markedly diverse clinical manifestations, with its underlying molecular mechanisms not yet fully elucidated. This study sought to examine the expression of the commonly deleted gene DGCR8 and its possible association with immune cell populations and cellular pathways involved in the immune response. We quantified DGCR8 mRNA levels, evaluated immune cell subsets, and conducted functional assays to measure S6-phosphorylation (PI3K-AKT-mTOR activity), H2AX-phosphorylation kinetics (DNA damage response), and STAT1 expression (interferon response) in 13 pediatric patients compared with healthy controls. Our findings indicate a reduced expression of DGCR8 in patients relative

SUBMITTER: Boz V 

PROVIDER: S-EPMC12682781 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature