Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Child Neuropsychiatry Unit, ASST Santi Paolo Carlo Hospital, 20142 Milan, Italy.
Int J Mol Sci. 2019 Aug 26;20(17):4160. doi: 10.3390/ijms20174160.
In this narrative review, we summarize recent pieces of evidence of the role of microbiota alterations in Rett syndrome (RTT). Neurological problems are prominent features of the syndrome, but the pathogenic mechanisms modulating its severity are still poorly understood. Gut microbiota was recently demonstrated to be altered both in animal models and humans with different neurodevelopmental disorders and/or epilepsy. By investigating gut microbiota in RTT cohorts, a less rich microbial community was identified which was associated with alterations of fecal microbial short-chain fatty acids. These changes were positively correlated with severe clinical outcomes. Indeed, microbial metabolites can play a crucial role both locally and systemically, having dynamic effects on host metabolism and gene expression in many organs. Similar alterations were found in patients with autism and down syndrome as well, suggesting a potential common pathway of gut microbiota involvement in neurodevelopmental disorders.
在这篇叙述性评论中,我们总结了微生物组改变在雷特综合征(RTT)中的作用的最新证据。神经问题是该综合征的突出特征,但调节其严重程度的发病机制仍知之甚少。最近的研究表明,肠道微生物组在患有不同神经发育障碍和/或癫痫的动物模型和人类中发生了改变。通过对 RTT 队列的肠道微生物组进行研究,发现微生物群落的丰富度降低,粪便微生物短链脂肪酸发生改变。这些变化与严重的临床结果呈正相关。事实上,微生物代谢物可以在局部和全身发挥关键作用,对许多器官的宿主代谢和基因表达产生动态影响。在自闭症和唐氏综合征患者中也发现了类似的改变,这表明肠道微生物组参与神经发育障碍的潜在共同途径。