{Reference Type}: Journal Article
{Title}: microRNA-mRNA expression profiles in the skeletal muscle of myotonic dystrophy type 1.
{Author}: Li M;Li Y;Wang Z;Cui F;Yang F;Wang H;Shi Q;Huang X;
{Journal}: Neurol Res
{Volume}: 46
{Issue}: 7
{Year}: 2024 Jul
{Factor}: 2.529
{DOI}: 10.1080/01616412.2024.2339102
{Abstract}: <B>UNASSIGNED: </B>Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults, yet there are currently no disease-modifying treatments. Disrupted miRNA expressions may lead to dysregulation of target mRNAs and dysfunction involved in DM1 pathogenic mechanism.<BR><B>UNASSIGNED: </B>We used microarray platforms to examine the miRNA/mRNA expression profiles in skeletal muscle biopsies derived from DM1 patients and matched controls. Bioinformatics analysis and dual-luciferase reporter assay were conducted to provide insight into miRNA-mRNA regulatory networks altered in DM1.<BR><B>UNASSIGNED: </B>Twenty-three differentially expressed miRNAs and 135 differentially expressed genes were identified. qPCR confirmed that miR-3201, myogenic factor 5 (MYF5), myogenic differentiation 1 (MYOD1), CUGBP, Elav-like family member 1 (CELF1), and CELF2 were significantly up-regulated, while miR-196a, miR-200c, and miR-146a were significantly down-regulated. Enriched functions and pathways such as multicellular organismal development, RNA splicing, cell differentiation, and spliceosome are relevant to DM1. The miRNA-mRNA interaction network revealed that miR-182, miR-30c-2, and miR-200c were the critical nodes that potentially interacted with hub genes. Luciferase reporter assay confirmed the direct interaction between miR-196a and CELF2.<BR><B>UNASSIGNED: </B>Those results implied that the observed miRNA/mRNA dysregulation could contribute to specific functions and pathways related to DM1 pathogenesis, highlighting the dysfunction of miR-196a and CELF2.