Role of the MeCP2 Gene in Sudden Unexpected Death in Epilepsy in Rett Syndrome

Angel Kibela; Zoë McMahon-Burke

doi:10.18192/osurj.v5i2.7934

Rôle du gène MeCP2 sur la mort subite inattendue en épilepsie dans le syndrome de Rett

Auteurs-es

Angel Kibela École secondaire catholique Garneau, Ottawa, ON, Canada
Zoë McMahon-Burke École secondaire catholique Garneau, Ottawa, ON, Canada

DOI :

https://doi.org/10.18192/osurj.v5i2.7934

Résumé

Intellectual disability and epilepsy are frequently associated (1-2), significantly increasing the risk of sudden unexpected death in epilepsy (1). Rett syndrome, caused by a mutation in the MeCP2 gene, is a relevant study model as it combines intellectual disability, epileptic seizures, and cardiorespiratory dysautonomia (3-5). Although the role of MeCP2 in neuronal homeostasis is documented (6-7), the mechanisms linking its deficiency to sudden unexpected death in epilepsy remain poorly elucidated. This research examines whether the loss of MeCP2 disrupts coordination between the cerebral cortex and autonomic centers of the brainstem, exacerbating post-ictal cardiac dysautonomia. Four murine groups will be compared to reflect the phenotypic variability of the syndrome: I) healthy control, II) healthy epileptic, III) hemizygous males (MeCP2-/Y), and IV) heterozygous females (MeCP2+/-). Since the gene is X-linked, the distinction between groups III and IV is necessary to provide a realistic representation of the syndrome while collecting conclusive data. Cortical and cardiac activity will be measured by electroencephalogram and electrocardiogram. Neuronal excitability will be visualized through imaging with a genetically encoded calcium indicator (GCaMP6) (8), while seizures will be induced by repeated pentylenetetrazole injection (8-9) to simulate a chronic epileptic state in all mice except group I. Analysis of parameters before, during, and after seizures will allow evaluation of post-ictal dynamics. It is expected that MeCP2-deficient mice will exhibit hyperactivity of autonomic centers and an excitation/inhibition imbalance, leading to more severe seizures and slower cardiorespiratory recovery, as suggested by previous studies (5). By clarifying these mechanisms, this study aims to better understand the pathophysiology of sudden unexpected death in epilepsy and guide the development of targeted therapeutic strategies for Rett syndrome.

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Publié-e

2026-06-17

Numéro

Vol. 5 No. 2 (2026)

Rubrique

Ottawa Science Innovation Challenge Abstracts

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