Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk
This first urinary metabolomic study of 22qDS demonstrates systemic metabolic alterations, including mitochondrial and microbiota-associated changes. The overlap with ASD is suggestive of a possible shared metabolic signature. Our findings provide initial insights into systemic and microbial contributions to neuropsychiatric vulnerability in this genetically defined high-risk population.
Authors
- Junko Hamada
- Seiichiro Jinde
- Kiyoto Kasai (ORCID: https://orcid.org/0000-0002-4443-4535)
- Miho Tanaka (ORCID: https://orcid.org/0000-0001-9041-3535)
- Yousuke Kumakura (ORCID: https://orcid.org/0000-0002-1685-5156)
- T. Minami (ORCID: https://orcid.org/0009-0008-5667-0173)
- Yukiko Kano (ORCID: https://orcid.org/0000-0002-2341-5095)
- Ryo Morishima (ORCID: https://orcid.org/0000-0003-0774-2827)
- Hidetaka Tamune (ORCID: https://orcid.org/0000-0002-5581-5720)
- Noriko Okochi
- Tomoko Ogawa (ORCID: https://orcid.org/0000-0002-1769-8260)
- Tempei Ikegame (ORCID: https://orcid.org/0009-0003-4436-3962)
- Akiko Kanehara
- Eureka Kumagai
Institutions
- Teikyo Heisei University (JP)
- Gunma University (JP)
- Juntendo University (JP)
- University of Tokyo Hospital (JP)
- National Center For Child Health and Development (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Psychiatry and Clinical Neurosciences Reports
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/pcn5.70261
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- International Research Center for Neurointelligence, University of Tokyo
- Moonshot Research and Development Program