Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy - PubMed
4 hours ago
- #SMC1A
- #developmental and epileptic encephalopathy
- #ataluren
- Study investigates molecular consequences of SMC1A gene variants in developmental and epileptic encephalopathy (DEE85).
- Transcriptomic profiles from DEE85 and Cornelia de Lange syndrome (CdLS) cell lines were analyzed, showing variant-specific effects.
- Nonsense variants in SMC1A cause the most significant gene expression changes.
- Ataluren treatment restored SMC1A protein levels and partially corrected gene expression abnormalities in nonsense variant cells.
- Findings support precision medicine strategies targeting nonsense variants in SMC1A for improved diagnosis and treatment.