The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?
The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?
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DOI：
10.1590/1678-4685-gmb-2017-0235
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发表时间：
2018
影响因子：
2.1
通讯作者：
Schwartz IVD
中科院分区：
文献类型：
--
作者：
Colonetti K;Roesch LF;Schwartz IVD
对微生物组对人体影响的研究为长期以来已知的多因素疾病提供了新的线索，如肥胖症、情绪障碍、自闭症和炎症性肠病。虽然先天性代谢错误(IEM)是单基因疾病，但仅靠基因不足以解释在这些疾病患者中观察到的广泛的表型差异。遗传和饮食对微生物群有很大的影响，饮食(单独或作为辅助)用于许多IEM的治疗。这篇综述将描述微生物组对宿主的影响如何通过与肝脏和脑等器官的相互作用来干扰IEM表型，肝脏和脑是最常见的受IEM影响的两个结构。还将讨论一些IEM的治疗策略与微生物组之间的关系。关于微生物组及其对IEMS患者的影响的研究仍处于起步阶段，但对于阐明在这些条件下观察到的表型变化至关重要。
Research into the influence of the microbiome on the human body has been shedding new light on diseases long known to be multifactorial, such as obesity, mood disorders, autism, and inflammatory bowel disease. Although inborn errors of metabolism (IEMs) are monogenic diseases, genotype alone is not enough to explain the wide phenotypic variability observed in patients with these conditions. Genetics and diet exert a strong influence on the microbiome, and diet is used (alone or as an adjuvant) in the treatment of many IEMs. This review will describe how the effects of the microbiome on the host can interfere with IEM phenotypes through interactions with organs such as the liver and brain, two of the structures most commonly affected by IEMs. The relationships between treatment strategies for some IEMs and the microbiome will also be addressed. Studies on the microbiome and its influence in individuals with IEMs are still incipient, but are of the utmost importance to elucidating the phenotypic variety observed in these conditions.