Research progress on the pathogenesis mechanism and therapeutic strategies of DCX mutants.
10.3760/cma.j.cn511374-20250926-00575
- Author:
Xuyan SUN
1
,
2
;
Bei LI
;
Siyu ZHAO
;
Xia LI
Author Information
1. Department of Pediatric Neurology, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China. LXhope20@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Doublecortin Protein;
Doublecortin Domain Proteins;
Animals;
Neuropeptides/metabolism*;
Microtubule-Associated Proteins/metabolism*;
Mutation
- From:
Chinese Journal of Medical Genetics
2026;43(1):70-75
- CountryChina
- Language:Chinese
-
Abstract:
The doublecortin (DCX) gene encodes DCX, a microtubule-associated protein that plays a crucial role in brain development. DCX variants can disrupt microtubule binding and stabilization, interfere with intracellular transport, and affect post-translational modifications. A correlation exists between variant types and clinical severity. Animal models and induced pluripotent stem cell (iPSC) models simulating DCX deficiency revealed the dynamic progression of the disease, which has provided a powerful tool for investigating disease mechanisms and screening therapeutic agents. Currently there is no cure for DCX variants, with treatment primarily relying on anti-epileptic drugs and symptom management. Basic research is now offering new avenues for future therapeutic approaches. This article has summarized the potential pathogenic mechanisms and therapeutic strategies for the DCX variants, with an aim to provide insights for clinical treatment.
