Summary of project PR002625
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002625. The data can be accessed directly via it's Project DOI: 10.21228/M8BK17 This work is supported by NIH grant, U2C- DK119886. See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR002625 |
| Project DOI: | doi: 10.21228/M8BK17 |
| Project Title: | Targeted Metabolomic Analysis of Neurotransmitters in Serum from 15q11-13 Duplication (15q dup) Mice and Wild-Type (WT) Mice |
| Project Summary: | Background: Duplications of the human chromosome 15q11-q13 region are among the most prevalent genetic causes of autism spectrum disorder (ASD) and epilepsy. While the genetic link is established, the downstream metabolic consequences, particularly disruptions in neurotransmitter systems, remain poorly characterized. This gap impedes our understanding of the underlying pathophysiology. Objectives: This study aimed to: 1) Quantitatively profile key neurotransmitters in a mouse model of human 15q duplication (orthologous locus on mouse chromosome 7); 2) Compare serum neurotransmitter levels between 15q dup mice and wild-type (WT) controls; and 3) Identify specific neurotransmitter dysregulations linked to this genetic alteration. Key Outcomes: Targeted LC-MS/MS analysis revealed significant disruptions in the dopaminergic and glutamatergic systems. A significant decrease in dopamine levels was observed in 15q dup mice compared to WT controls. Concurrently, a significant increase in glutamate levels was detected. These findings provide direct evidence of a systemic imbalance involving reduced dopaminergic signaling and elevated excitatory glutamate tone in the 15q duplication model. This novel metabolic profile offers a crucial biochemical correlate to the neurological phenotypes and highlights potential therapeutic targets for modulating neurotransmission in related disorders. |
| Institute: | Capital Medical University |
| Last Name: | CHEN |
| First Name: | XINRAN |
| Address: | No. 10, West First Lane, outside You'anmen, Beijing, (86) CHINA, 100069, China |
| Email: | 1193190073@qq.com |
| Phone: | +86 18513650973 |
Summary of all studies in project PR002625
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST004165 | Targeted Metabolomic Analysis of Neurotransmitters in Serum from 15q11-13 Duplication (15q dup) mice and Wild-Type (WT) Mice | Mus musculus | Capital Medical University | MS | 2025-09-25 | 1 | 15 | Uploaded data (2.9M)* |
