Due to the availability of drugs targeting histone acetylation and associated reader proteins, the equilibrium of histone acetylation and deacetylation has attracted attention in multiple myeloma as a potential therapeutic target. Therefore, the identification of novel predictive biomarkers for multiple myeloma patient selection for epigenetic therapies is urgently needed.
Arthrogryposis multiplex congenita (AMC) is a group of disorders defined by two or more contractures in different body areas; while genes encoding sarcomeric proteins are usually involved in its pathogenesis, the role of the dystrophin complex is not well studied in AMC. Utrophin, encoded by the UTRN gene, is an important fetal dystrophin homologue and was the focus of a recently presented study.
Autism spectrum disorder (ASD), developmental epileptic encephalopathies and other neurodevelopmental disorders are driven by the disruption of genes regulating neuronal proliferation, differentiation and synaptic maturation. Researchers from Shanghai Jiao Tong University School of Medicine generated Csnk2b haploinsufficient (Csnk2b+/-) mice mimicking the most relevant disease features to investigate the effects of reduced gene dosage.
