Clin Epigenetics. 2025 Oct 17;17(1):173. doi: 10.1186/s13148-025-01962-5.
ABSTRACT
As a member of the hemoglobin family, γ-globin is usually persistently expressed at high levels to perform the oxygen-carrying function during fetal development. In recent years, related gene editing clinical trials have confirmed that reactivation of γ-globin expression is a promising therapeutic strategy for treating β-hemoglobinopathies, including β-thalassemia and sickle cell disease. Human γ-globin expression is finely regulated by multiple mechanisms, and a deeper understanding of the mechanisms will help develop drugs that target its activation. With the advancement of biotechnology, epigenetic modifications (EMs) and protein post-translational modifications (PPTMs) have shown irreplaceable roles in the regulation of γ-globin expression. Therefore, this review will comprehensively summarize the regulatory mechanisms of EMs and PPTMs on γ-globin to provide new ideas for the treatment of β-hemoglobinopathies.
PMID:41107978 | DOI:10.1186/s13148-025-01962-5
