Comparative Analysis of MBNL1 Antibodies: Characterization of Recognition Sites and Detection of RNA Foci Colocalization

Genes, Год журнала: 2025, Номер 16(6), С. 658 - 658

Опубликована: Май 29, 2025

Background/Objectives: MBNL1 is an RNA-binding protein involved in RNA metabolism, including splicing. It colocalizes with foci, a pathological hallmark of myotonic dystrophy, and plays central role its disease mechanism. Moreover, has been implicated other neuromuscular disorders cancers. In these biochemical studies, the detection using antibodies essential. Given that multiple splicing-derived isoforms, different may recognize distinct isoforms. This study aims to compare six commercially available regarding their specificity Western blotting, colocalization suitability for immunoprecipitation. Methods: blot analysis was performed isoforms deletion mutants expressed HEK293 cells, as well endogenous from various cell lines. fluorescence situ hybridization (FISH) immunofluorescence (IF) were conducted DM1 model cells patient-derived fibroblasts assess foci. Immunoprecipitation experiments evaluate antibody isolation. Results: revealed target regions MBNL1, three recognizing exon 3 remaining 4, 5, 6, respectively. FISH-IF experiments, clarity foci varied depending on used, some failing detect colocalization. The immunoprecipitation showed four able isolate MBNL1. Conclusions: clarifies recognition properties application antibodies, providing valuable resource research MBNL1-related diseases metabolism.

Язык: Английский

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(11), С. 5350 - 5350

Опубликована: Июнь 2, 2025

Myotonic dystrophy type 1 (DM1) is a complex, multisystemic neuromuscular disorder with several pathological phenotypes, disease severities and ages of onset. DM1 presents significant challenges in clinical management due to its nature, affecting multiple organs systems beyond skeletal muscle. Tackling this condition requires comprehensive approach that goes symptom management, particularly considering the complexity manifestations delayed diagnosis. In review we will discuss multisystem symptoms how understanding guiding development potential therapies for improvement patient outcomes quality life. This aims explore available treatments novel disease-modifying targeting molecular mechanisms address broad DM1. Effective strategies manage remain crucial, such as physical therapy, medications myotonia diligent cardiac care. Metabolic hormonal play crucial roles addressing endocrine metabolic abnormalities. Nevertheless, promising targeted include antisense oligonucleotides (ASOs) RNA degradation, small molecules disrupt protein-RNA interactions gene editing offer prospective underlying improve across different organ systems.

Язык: Английский