Chromodomain-helicase-DNA-binding protein 2 mRNA (CHD2 mRNA)

Chromodomain-helicase-DNA-binding protein 2 (CHD2) mRNA is the transcript of the CHD2 gene, which encodes a member of the SNF2-like family of ATP-dependent chromatin remodeling proteins [1][2]. The CHD2 protein plays a critical role in regulating gene expression by modifying chromatin structure, a process essential for normal embryonic development and neuronal differentiation [1][3]. Mutations in the CHD2 gene, typically resulting in haploinsufficiency, are a primary cause of CHD2-related neurodevelopmental disorders, which are characterized by early-onset epilepsy, intellectual disability, and autism spectrum disorders [3]. Because these conditions arise from insufficient protein levels, the CHD2 mRNA has become a focal point for RNA-targeted therapeutic interventions [4]. Experimental strategies, such as the use of antisense oligonucleotides (ASOs), aim to modulate the splicing or stability of CHD2 mRNA to increase the production of functional CHD2 protein [4]. These approaches, including technologies like Targeted Augmentation of Nuclear Gene Output (TANGO), seek to restore normal chromatin remodeling activity and alleviate the severe neurological symptoms associated with CHD2 deficiency [4]. [1] UniProt Consortium. "CHD2 - Chromodomain-helicase-DNA-binding protein 2 - Homo sapiens (Human)." UniProtKB, O14647. [2] National Center for Biotechnology Information (NCBI). "CHD2 chromodomain helicase DNA binding protein 2 [Homo sapiens (human)]." Gene ID: 1106. [3] Suls, A., et al. (2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy." Nature Genetics, 45(5), 557-561. [4] Stoke Therapeutics. "Pipeline: CHD2-related neurodevelopmental disorders." stoketherapeutics.com.

Other names

CHD-2 mRNAChromodomain helicase DNA binding protein 2 transcriptEEOC mRNA

Upregulation of protein expression via antisense oligonucleotide-mediated modulation of pre-mRNA splicing to increase productive mRNA levels and restore functional protein concentrations.