期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 42, 期 -, 页码 959-964出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST20140071
关键词
antioxidant; autism spectrum disorder; mitochondrial disease; oxidative stress; reactive oxygen species (ROS); redox imaging
资金
- Deutsche Forschungsgemeinschaft (Center for Nanoscale Microscopy and Molecular Physiology of the Brain, CNMPB)
- International Rett Syndrome Foundation (IRSF) [2817]
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.
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