Could a new molecule offer hope for creatine transporter deficiency (CTD)? This spotlight summarizes recent advances in innovative molecules to treat CTD, a genetic disorder that prevents creatine uptake in the brain, leading to intellectual disability and other neurological issues. The research focuses on dodecyl creatine ester, a promising drug candidate. Pathogenic variants in SLC6A8, the gene encoding creatine transporter SLC6A8, prevent creatine uptake in the brain, resulting in variable degrees of intellectual disability, behavioral disorders, epilepsy, and speech and language delay. Currently, there are no effective treatments to improve neurodevelopmental outcomes for CTD. Dodecyl creatine ester offers a potential solution by facilitating creatine delivery to the brain. This spotlight highlights the potential of dodecyl creatine ester therapy to address the unmet needs of individuals with CTD. By summarizing recent research, it provides a valuable overview of this promising therapeutic approach and its potential to improve neurodevelopmental outcomes for patients with this debilitating condition.
Published in Cellular and Molecular Life Sciences, this spotlight aligns with the journal's focus on highlighting significant advances in molecular biology and their applications in understanding and treating diseases. By summarizing research on dodecyl creatine ester, this article contributes to the journal's mission of promoting cutting-edge research in life sciences.