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Distinct peripheral pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy
Renaud Balthazard1,2, Rose-Marie Drouin-Engler1,2, Samuel Bertrand2,3
1Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
Epilepsia
|January 16, 2025
Summary
Tuberous sclerosis complex (TSC) is linked to inflammation and epilepsy. Elevated glial fibrillary acidic protein (GFAP) and inflammatory cytokines in TSC patients may indicate epilepsy and offer new therapeutic targets.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder driven by mechanistic target of rapamycin (mTOR) overactivation.
- Epilepsy and renal angiomyolipomas are major causes of morbidity in individuals with TSC.
- Inflammation plays a role in TSC pathogenesis and potentially in epileptogenesis.
Purpose of the Study:
- To investigate the relationship between neuroglial activation/injury markers, peripheral inflammation, and active epilepsy in TSC.
- To identify potential biomarkers for monitoring epilepsy progression and treatment response in TSC.
- To explore novel therapeutic targets for TSC-related epilepsy.
Main Methods:
- A cross-sectional study comparing markers of central nervous system (CNS) injury (GFAP, NfL) and peripheral inflammation (45 cytokines) in individuals with TSC (pwTSC) and healthy controls (HCs).
- Comparison of inflammatory markers between pwTSC with active epilepsy and those without epilepsy.
- Validation of findings in an independent TSC cohort.
Main Results:
- Individuals with TSC exhibit elevated serum GFAP, IL-1β, CXCL8, and EGF compared to HCs and non-TSC epilepsy controls.
- Active epilepsy in pwTSC is associated with higher GFAP levels and increased pro-inflammatory cytokines (IL-17A, IL-17C, TNF-α).
- Renal angiomyolipoma presence/size in pwTSC correlates with IL-15 levels.
Conclusions:
- Key inflammatory mediators are implicated in the epileptogenesis of TSC.
- These inflammatory markers show potential as novel biomarkers for epilepsy in TSC.
- Inflammatory pathways represent promising therapeutic targets for TSC-related epilepsy.
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