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Tuberous sclerosis complex, epilepsy, and the microbiota-gut-brain axis: a pilot
study of shared and divergent microbial signatures
#MMPMID41341265
Ottaviano E
; Marsiglia MD
; Ceccarani C
; Ancona S
; Triva F
; La Briola F
; Bergamoni S
; Teutonico F
; Pompili A
; Vigaṇ I
; Ricci E
; Vignoli A
; Borghi E
Front Neurosci
2025[]; 19
(?): 1655456
PMID41341265
show ga
OBJECTIVE: Tuberous sclerosis complex (TSC) presents with a broad clinical
spectrum. While some individuals exhibit mild symptoms, most experience seizures
and neuropsychiatric comorbidities. Emerging evidence suggests that both genetic
and environmental factors, including gut microbiota, may influence epilepsy
susceptibility. The microbiota-gut-brain axis (MGBA) is a key communication
pathway through which intestinal microbes impact the central nervous system.
Although the role of the MGBA in the pathogenesis of neurological diseases,
particularly seizures, has been explored in both animal models and humans, data
specific to TSC are lacking. METHODS: In this exploratory study, we assessed
whether individuals with TSC (n?=?15) display a distinct gut microbial signature
using V3-V4 16S rRNA sequencing. Their profiles were compared with two control
groups: 18 children with epilepsy (EPI) and 12 age- and sex-matched healthy
controls (HC). Stool short-chain fatty acid (SCFA) levels and dietary intake were
also evaluated. RESULTS: No significant differences were observed among the three
groups in dietary intake, SCFA and branched-chain fatty acid (BCFA) levels, or
alpha-diversity. Beta-diversity analysis showed a non-significant trend toward
clustering of TSC and EPI samples, indicating a shared microbial profile distinct
from HC. Taxonomic analysis revealed a reduction in Firmicutes-particularly the
Ruminococcaceae family and the genus Gemmiger-in both TSC and EPI groups,
consistent with epilepsy-associated dysbiosis. Notably, the TSC group showed a
specific enrichment in Akkermansiaceae, a feature also reported in other
neurodevelopmental disorders such as CDKL5 deficiency disorder and cerebral
palsy. SIGNIFICANCE: These preliminary findings suggest that gut microbiota
alterations may contribute to neuroinflammatory processes linked to
epileptogenesis and comorbidities in TSC. Further studies are needed to validate
these results and explore microbiota-based therapeutic strategies aimed at
improving outcomes and quality of life for individuals with TSC and their
caregivers.
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