Neonatal Intensive Care Unit University Hospital, Azienda Ospedaliera Universitaria Senese of Siena, Siena, Italy.
Ann N Y Acad Sci. 2012 Jul;1259:121-35. doi: 10.1111/j.1749-6632.2012.06611.x.
The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. To date, no cure for RTT exists, although disease reversibility has been demonstrated in animal models. Emerging evidence from our and other laboratories indicates a potential role of oxidative stress (OS) in RTT. This review examines the current state of the knowledge on the role of OS in explaining the natural history, genotype-phenotype correlation, and clinical heterogeneity of the human disease. Biochemical evidence of OS appears to be related to neurological symptom severity, mutation type, and clinical presentation. These findings pave the way for potential new genetic downstream therapeutic strategies aimed at improving patient quality of life. Further efforts in the near future are needed for investigating the yet unexplored "black box" between the MeCP2 gene mutation and subsequent OS derangement.
雷特综合征（RTT）是一种普遍存在的发育障碍，几乎仅发生于女性，其主要病因是甲基化CpG 结合蛋白 2（MeCP2）基因突变。尽管在动物模型中已证明疾病具有可逆性，但目前尚无 RTT 的治愈方法。我们和其他实验室的新证据表明氧化应激（OS）在 RTT 中可能起作用。这篇综述检查了 OS 在解释人类疾病的自然史、基因型-表型相关性和临床异质性中的作用的现有知识状态。OS 的生化证据似乎与神经症状严重程度、突变类型和临床表现有关。这些发现为潜在的新的遗传下游治疗策略铺平了道路，旨在提高患者的生活质量。在不久的将来，需要进一步努力研究 MeCP2 基因突变与随后的 OS 紊乱之间尚未探索的“黑匣子”。
