In vitro analysis of mitochondrial abnormalities and oxinflammatory mechanisms involved in Rett Syndrome
Gabriele Baj, Matteo Muccini, Gaia Tartaglione, Agnes Thalhammer, Michela Sgubin, Alessandra Pecorelli, Andrea Vallese, Laura Gemmo, Valeria Cordone, Giuseppe Valacchi · FENS Forum 2024
Rett Syndrome (RTT) is a genetic neurodevelopmental disorder characterized by progressive regression of mental and psychomotor development during the symptomatic phase, following a period of apparent normal growth in the first months of life (presymptomatic phase). Evidence suggests that metabolic abnormalities, including mitochondrial dysfunction, aberrant redox homeostasis, and subclinical inflammation, significantly contribute to RTT. The unique pathogenic development of RTT involves a relatively slow transition to the symptomatic stage, providing a critical time window for early diagnosis
ePoster · Neuroscience