Developmental Arrest Associated with Altered Cerebellar Metabolism in Sudden Infant Death Syndrome
Ghaemmaghami, J.; Simonti, G.; Sanidas, G.; Wolff, N.; Triantafyllou, M.; Trejo, R. C.; Pettersen, H. S.; Gallo, V.; Koutroulis, I.; Kratimenos, P.
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BackgroundEffective autoresuscitation during hypoxic stress demands the cerebellum integrate autonomic and arousal responses. It remains unknown if the SIDS cerebellum possesses the metabolic stability and developmental maturity to sustain this function. We aimed to define if cerebellar dysfunction constitutes a silent failure point within the central respiratory network. MethodsWe performed multi-omic integration of RNA-sequencing, targeted metabolomics, and quantitative histology on postmortem cerebellar tissue from SIDS infants and age-matched controls. Cross-omic concordance analysis mapped the relationship between metabolite abundance and the transcriptional directionality of corresponding metabolic enzymes. ResultsThe SIDS cerebellum revealed a distinct profile defined by neuroinflammation and altered GABA and glutamate metabolism. Targeted metabolomics confirmed a metabolic imbalance with significantly elevated glutamate and GABA (P < 0.05). Quantitative histology exposed concurrent developmental arrest; persistent external granule layers highlighted morphological immaturity, explaining the failure to mount effective compensatory responses. ConclusionsMetabolic pathology in the SIDS cerebellum is intrinsically linked to structural immaturity. This developmental arrest creates a compromised environment lacking the metabolic competence to support neural homeostasis, preventing critical arousal responses required for survival. ImpactO_LIMulti-omic and neuropathological analysis reveal that structural immaturity in SIDS cerebellum is directly linked to neuroinflammation and metabolic excitotoxicity. C_LIO_LIDevelopmental arrest leaves the tissue metabolically incompetent to support the neural homeostasis required for infant survival during hypoxic stress. C_LIO_LIThis study shifts the focus of SIDS pathology beyond traditional brainstem mechanisms by establishing the cerebellum as a critical, point of failure within the central respiratory network, providing a direct link between morphological delay and functional neurochemical disruption C_LIO_LIThese findings offer translatable paradigm for understanding SIDS vulnerability and identify specific metabolic targets for future diagnostic risk screening and therapeutic interventions. C_LI
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