#AI reads Urine#Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk

Researchers from the University of Tokyo and other institutions in Japan conducted an exploratory study comparing the urinary metabolomes of 10 patients with 22q11.2 deletion syndrome and 10 age- and sex-matched healthy controls. Metabolites were detected using two mass spectrometry techniques, and relevant statistical analyses were performed. The results showed that the levels of various metabolites in the urine of patients, such as 2-hydroxyglutaric acid and p-cresol sulfate, were elevated, while the levels of citrulline and lysine were reduced. These changes indicate that patients have mitochondrial dysfunction, amino acid imbalance, and gut microbiota dysbiosis. Notably, many of these abnormal metabolites are consistent with those associated with autism spectrum disorder, suggesting a potential shared metabolic signature between the two conditions. This study is the first to reveal the urinary metabolic characteristics of 22q11.2 deletion syndrome, providing preliminary insights into the systemic and microbial mechanisms underlying the susceptibility to neuropsychiatric diseases in this genetic disorder, and offering ideas for the development of non-invasive screening methods. However, the study has limitations, such as a small sample size.

PCN Rep. 2025 Dec 2;4(4):e70261. doi: 10.1002/pcn5.70261.

Youhe Gao

Statement: During the preparation of this work the author(s) used Doubao / AI reading for summarizing the content. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the published article.

For earlier AI Reads Urine articles：

https://www.keaipublishing.com/en/journals/advances-in-biomarker-sciences-and-technology/ai-reads-urine/