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Compromised immune/inflammatory responses in Rett syndrome
Alessandra Pecorelli1, Carlo Cervellati2, Valeria Cordone2
1Plants for Human Health Institute, Dept. of Animal Science, NC Research Campus, NC State University, Kannapolis, 28081, NC, USA.
Abstract:
Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure. Despite extensive research to elucidate MeCP2 functions, the mechanisms underlying RTT pathophysiology are still unclear. In addition to a variety of neurological symptoms, RTT also includes a plethora of additional phenotypical features including altered lipid metabolism, redox imbalance, immune dysfunction and mitochondrial abnormalities that explain its multisystemic nature. Here, we provide an overview of the current knowledge on the potential role of dysregulated inflammatory and immune responses in RTT. The findings show that abnormalities of humoral and cell-mediated immunity together with chronic low-grade inflammation in multiple organs represent not only clinical manifestations of RTT but rather can contribute to its development and deteriorating course. A future research challenge could be to target therapeutically immune dysfunction as a novel means for RTT management.
Insights
Rett syndrome (RTT), caused by MECP2 gene mutations, involves immune dysfunction and inflammation. These abnormalities may drive RTT
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene.
- RTT presents with neurological symptoms and multisystemic features, including immune dysfunction and inflammation.
- The precise mechanisms underlying RTT pathophysiology remain unclear.
Purpose of the Study:
- To review current knowledge on the role of inflammatory and immune responses in RTT.
- To explore how immune system abnormalities contribute to RTT development and progression.
Main Methods:
- Literature review of studies investigating immune and inflammatory pathways in RTT.
- Analysis of findings related to humoral and cell-mediated immunity in RTT patients.
Main Results:
- Dysregulated immune responses, including humoral and cell-mediated abnormalities, are characteristic of RTT.
- Chronic low-grade inflammation is present in multiple organs in RTT.
- These immune and inflammatory alterations may contribute to the disease's development and worsening course.
Conclusions:
- Immune dysfunction and chronic inflammation are integral to RTT pathophysiology, not just symptoms.
- Targeting immune dysfunction presents a potential therapeutic strategy for managing RTT.
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