Huang Ziyu, Wei Ailing, Yuan Hai, Huang Shiqin, Chen Xiaolan, Han Yunli, Li Xing
Pediatrics, Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, 530021, China.
Department of children rehabilitation, The First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, 530021, Nanning, China.
BMC Pediatr. 2025 Aug 12;25(1):621. doi: 10.1186/s12887-025-05922-z.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that may have long-term effects on individual development, family functioning, and social integration. This study aimed to determine the gut microbiota and urine metabolomics signature and identify the regional characteristics in ASD from Southern China.
We conducted a cohort study of 88 well-characterized participants from Guangxi Zhuang Autonomous Region in Southern China. Gut microbiota and urine metabolomics signature was explored by 16 S rRNA sequences and untargeted metabolomic profiles respectively.
The gut microbial α-diversity of ASD were significantly lower than healthy controls. The β-diversity analysis indicated that the community structure in ASD group was obviously distinctive. Significant microbiota enriched in 5 sensitive species, Faecalibacterium prausnitzii, Bifidobacterium catenulatum, Blautia obeum, Lachnoclostridium sp., and Blautia sp. in ASD children. In addition, functional analysis of the gut microbiota revealed that the ATP-binding cassette and ABC-2 type transport system ATP-binding protein were closely associated with ASD. Notably, microbiota showing a positive correlation with Androstenedione, Stearamide, Oleamide, Cadaverine, Hexadecanamide, Orotic acid, Linoleic acid, Palmitoleic acid, Lauric acid, suggesting a potential association with the Arginine and proline metabolism pathway.
This study found lower α-diversity, unique β-diversity, enriched species, and positive correlations between microbiota and Arginine/Proline metabolis, which demonstrated typical signature of microbiota and metabolites discriminated Zhuang ethnic group ASD children of regional characteristics.
自闭症谱系障碍（ASD）是一种神经发育障碍，可能对个体发育、家庭功能和社会融合产生长期影响。本研究旨在确定中国南方ASD患者的肠道微生物群和尿液代谢组学特征，并识别其区域特征。
我们对来自中国南方广西壮族自治区的88名特征明确的参与者进行了队列研究。分别通过16S rRNA序列和非靶向代谢组学分析来探索肠道微生物群和尿液代谢组学特征。
ASD患者的肠道微生物α多样性显著低于健康对照组。β多样性分析表明，ASD组的群落结构明显不同。在ASD儿童中，有5种敏感物种显著富集，即普拉梭菌、链状双歧杆菌、奥氏布劳特氏菌、拉氏梭菌属和布劳特氏菌属。此外，肠道微生物群的功能分析表明，ATP结合盒和ABC-2型转运系统ATP结合蛋白与ASD密切相关。值得注意的是，微生物群与雄烯二酮、硬脂酰胺、油酰胺、尸胺、十六酰胺、乳清酸、亚油酸、棕榈油酸、月桂酸呈正相关，提示可能与精氨酸和脯氨酸代谢途径存在潜在关联。
本研究发现α多样性降低、独特的β多样性、物种富集以及微生物群与精氨酸/脯氨酸代谢之间的正相关，这些结果表明了具有区域特征的壮族ASD儿童微生物群和代谢物的典型特征。
