Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA.
Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Nat Commun. 2021 Sep 10;12(1):5371. doi: 10.1038/s41467-021-25694-1.
Konzo, a distinct upper motor neuron disease associated with a cyanogenic diet and chronic malnutrition, predominately affects children and women of childbearing age in sub-Saharan Africa. While the exact biological mechanisms that cause this disease have largely remained elusive, host-genetics and environmental components such as the gut microbiome have been implicated. Using a large study population of 180 individuals from the Democratic Republic of the Congo, where konzo is most frequent, we investigate how the structure of the gut microbiome varied across geographical contexts, as well as provide the first insight into the gut flora of children affected with this debilitating disease using shotgun metagenomic sequencing. Our findings indicate that the gut microbiome structure is highly variable depending on region of sampling, but most interestingly, we identify unique enrichments of bacterial species and functional pathways that potentially modulate the susceptibility of konzo in prone regions of the Congo.
科松病是一种独特的上运动神经元疾病，与含氰苷的饮食和慢性营养不良有关，主要影响撒哈拉以南非洲的儿童和育龄妇女。虽然导致这种疾病的确切生物学机制在很大程度上仍难以捉摸，但宿主遗传学和环境因素，如肠道微生物组，已被牵连其中。利用来自刚果民主共和国（科松病最常见的地方）的 180 名个体的大型研究人群，我们调查了肠道微生物组的结构如何在地理背景下发生变化，并首次使用鸟枪法宏基因组测序深入了解受这种使人衰弱的疾病影响的儿童的肠道菌群。我们的研究结果表明，肠道微生物组的结构高度依赖于采样区域，但最有趣的是，我们确定了一些独特的细菌物种和功能途径的富集，这些细菌和功能途径可能调节了刚果易患科松病的地区的易感性。
