Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction DOI Creative Commons

Júlia Lopes Gonçalez,

Jenny Shen,

Wei Li

et al.

Cells, Journal Year: 2024, Volume and Issue: 13(24), P. 2077 - 2077

Published: Dec. 17, 2024

Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations the Methyl-CpG-binding Protein-2 (MECP2) gene. When MeCP2 is impaired, it disrupts regulation of numerous genes, causing production dysfunctional proteins associated with various multi-systemic issues RTT. In this review, we explore current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, their implications for pathophysiology Research has shown that monoamines—such as dopamine, norepinephrine, epinephrine, serotonin, histamine—exhibit alterations RTT, contributing a range neurological symptoms. Furthermore, system RTT individuals demonstrates dysfunction through abnormal activity microglia, macrophages, lymphocytes, non-immune cells, leading atypical release inflammatory mediators disruptions NF-κB pathway. Moreover, mitochondria, essential energy calcium storage, also show condition. The delicate balance producing scavenging reactive oxygen species—termed redox balance—is disrupted Targeting these pathways presents promising avenue developing effective therapies.

Language: Английский

Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction DOI Creative Commons

Júlia Lopes Gonçalez,

Jenny Shen,

Wei Li

et al.

Cells, Journal Year: 2024, Volume and Issue: 13(24), P. 2077 - 2077

Published: Dec. 17, 2024

Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations the Methyl-CpG-binding Protein-2 (MECP2) gene. When MeCP2 is impaired, it disrupts regulation of numerous genes, causing production dysfunctional proteins associated with various multi-systemic issues RTT. In this review, we explore current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, their implications for pathophysiology Research has shown that monoamines—such as dopamine, norepinephrine, epinephrine, serotonin, histamine—exhibit alterations RTT, contributing a range neurological symptoms. Furthermore, system RTT individuals demonstrates dysfunction through abnormal activity microglia, macrophages, lymphocytes, non-immune cells, leading atypical release inflammatory mediators disruptions NF-κB pathway. Moreover, mitochondria, essential energy calcium storage, also show condition. The delicate balance producing scavenging reactive oxygen species—termed redox balance—is disrupted Targeting these pathways presents promising avenue developing effective therapies.

Language: Английский

Citations

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