Aberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome

作者：Mueller Michael; Can Karolina

来源：Biochemical Society Transactions, 2014, 42(4): 959-964.

DOI：10.1042/BST20140071

• antioxidant
• autism spectrum disorder
• mitochondrial disease
• oxidative stress
• reactive oxygen species (ROS)
• redox imaging

RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical imbalance and miscommunication of neuronal elements. Different pharmacotherapies mediate partial improvement of conditions in RTT, and also antioxidants or compounds improving mitochondrial function may be of potential merit. In the present paper, we summarize findings from patients and transgenic mice that point towards the nature of RTT as a mitochondrial disease. Also, open questions are addressed that require clarification to fully understand and successfully target the associated cellular redox imbalance.

• 出版日期2014-8