Quantification of Interactions between Small Molecules and RNA Probes Representative of Myotonic Dystrophy Type 1 Using Affinity Capillary Electrophoresis and UPLC-UV.

ABSTRACT: Myotonic dystrophy type 1 (OMIM #160900) is a multisystemic, autosomal, and dominantly inherited pathology. It is characterized by an expansion (>50) of trinucleotides [CTG] _n on the 3' untranslated region of the dystrophia myotonica protein kinase gene, transcribed into RNA [CUG] _n , aggregating in the nucleus as foci. The most accepted pathological mechanism considers the sequestration and dysregulation of proteins, including splicing factors (muscle-blind-like splicing regulator 1 and CUG-binding protein 1) by pathological RNA. Different therapeutic strategies to overcome this defect exist, such as the use of small molecules targeting the pathological RNA to prevent sequestration. Among these small molecules, pentamidine (PTMD), an antiprotozoa

SUBMITTER: Leveque M 

PROVIDER: S-EPMC12777318 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature