Summary of Study ST004165
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
| Study ID | ST004165 |
| Study Title | Targeted Metabolomic Analysis of Neurotransmitters in Serum from 15q11-13 Duplication (15q dup) mice and Wild-Type (WT) Mice |
| Study Summary | This dataset comprises targeted mass spectrometry-based metabolomic profiling of neurotransmitters in serum samples from a mouse model of human chromosome 15q duplication syndrome, where the genetic alteration has been engineered in the orthologous region on mouse chromosome 7. The study aimed to quantify alterations in the levels of key neurotransmitters (e.g., serotonin, dopamine, GABA, glutamate, etc.) resulting from this genetic aberration, which models a known genetic risk factor for neurodevelopmental disorders such as autism spectrum disorder (ASD). Serum was collected from 7 mutant mice and 8 wild-type (WT) littermate controls. Analysis was performed using a targeted LC-MS/MS platform optimized for the sensitive detection and absolute quantification of a panel of neuroactive compounds. The dataset includes raw mass spectrometric files, processed data with concentrations of quantified neurotransmitters, and associated metadata. This resource provides a valuable quantitative profile of peripheral neurotransmitter dynamics in this well-validated genetic model and supports investigations into the biochemical mechanisms linking specific genetic lesions to neurodevelopmental phenotypes. |
| Institute | Capital Medical University |
| Last Name | CHEN |
| First Name | XINRAN |
| Address | No. 10, West First Lane, outside You'anmen, Beijing, (86) CHINA, 100069, China |
| 1193190073@qq.com | |
| Phone | +86 18513650973 |
| Submit Date | 2025-08-27 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | mzML |
| Analysis Type Detail | LC-MS |
| Release Date | 2025-09-25 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Project:
| 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 |
Subject:
| Subject ID: | SU004316 |
| Subject Type: | Mammal |
| Subject Species: | Mus musculus |
| Taxonomy ID: | 10090 |
Factors:
Subject type: Mammal; Subject species: Mus musculus (Factor headings shown in green)
| mb_sample_id | local_sample_id | Experimental factor | Sample source |
|---|---|---|---|
| SA481251 | Serum-15q-dup-1 | 15q-dup | Serum |
| SA481252 | Serum-15q-dup-2 | 15q-dup | Serum |
| SA481253 | Serum-15q-dup-3 | 15q-dup | Serum |
| SA481254 | Serum-15q-dup-5 | 15q-dup | Serum |
| SA481255 | Serum-15q-dup-6 | 15q-dup | Serum |
| SA481256 | Serum-15q-dup-7 | 15q-dup | Serum |
| SA481257 | Serum-15q-dup-8 | 15q-dup | Serum |
| SA481258 | Serum-WT-1 | WT | Serum |
| SA481259 | Serum-WT-2 | WT | Serum |
| SA481260 | Serum-WT-3 | WT | Serum |
| SA481261 | Serum-WT-4 | WT | Serum |
| SA481262 | Serum-WT-5 | WT | Serum |
| SA481263 | Serum-WT-6 | WT | Serum |
| SA481264 | Serum-WT-7 | WT | Serum |
| SA481265 | Serum-WT-8 | WT | Serum |
| Showing results 1 to 15 of 15 |
Collection:
| Collection ID: | CO004309 |
| Collection Summary: | Serum was collected from 15q duplication (15q dup) and wild-type (WT) littermate mice at 8 weeks of age. Mice were fasted for 6 hours and anesthetized prior to blood collection. Blood was drawn via retro-orbital bleeding and allowed to clot at room temperature for 30 minutes. The clotted blood was then centrifuged at 3000 rpm for 15 minutes at 4°C to separate the serum supernatant. The serum was aliquoted into clean tubes and immediately snap-frozen in liquid nitrogen. All aliquots were stored at -80°C until metabolomic analysis. |
| Sample Type: | Blood (serum) |
Treatment:
| Treatment ID: | TR004325 |
| Treatment Summary: | No specific pharmacological or dietary treatment was administered. The study focuses on the comparison of endogenous metabolism between genetically engineered 15q dup mice and their wild-type littermate controls. |
Sample Preparation:
| Sampleprep ID: | SP004322 |
| Sampleprep Summary: | 1. Take an appropriate amount of sample, add 600 μL of 85% acetonitrile (v/v, containing succinic acid-2,2,3,3-d4 and tryptophan-[H5], 1 mM BHT, with 0.15% formic acid) to precipitate proteins. Vortex and sonicate for 5 min. 2. Centrifuge for 10 min (4°C, 12,000 rpm), remove 500 μL supernatant and evaporate to dryness; 3. Resuspend in 300 μL water (containing internal standard L-2-chlorophenylalanine), vortex for 30 s, then sonicate for 5 min in an ice-water bath; 4. Centrifuge for 10 min (4°C, 13,000 rpm). Transfer 200 μL supernatant to a brown LC injection vial and store at -80°C until analysis. Notes: 1. All extraction reagents must be pre-chilled at -20°C prior to use. 2. Quality control (QC) samples are prepared by mixing equal volumes of extraction solutions from all samples; each QC volume matches the sample volume. |
Combined analysis:
| Analysis ID | AN006914 |
|---|---|
| Chromatography ID | CH005251 |
| MS ID | MS006611 |
| Analysis type | MS |
| Chromatography type | UPLC |
| Chromatography system | Waters Acquity I-Class |
| Column | ACQUITY UPLC HSS PFP （100 mm × 2.1 mm, 1.8 μm） |
| MS Type | ESI |
| MS instrument type | Triple quadrupole |
| MS instrument name | ABI Sciex 5500 QTrap |
| Ion Mode | UNSPECIFIED |
| Units | ng/mL |
Chromatography:
| Chromatography ID: | CH005251 |
| Instrument Name: | Waters Acquity I-Class |
| Column Name: | ACQUITY UPLC HSS PFP （100 mm × 2.1 mm, 1.8 μm） |
| Column Temperature: | 40°C |
| Flow Gradient: | [0-1 min: 1% B - 1% B; 1-6 min: 1% B - 95% B; 6-7 min: 95% B - 95% B; 7-7.01 min: 95% B - 1% B; 7.01-8 min: 1% B - 1% B] |
| Flow Rate: | 0.3 mL/min |
| Solvent A: | 100% Water; 0. 1% Formic acid |
| Solvent B: | 100% Methanol; 0. 1% Formic acid |
| Chromatography Type: | UPLC |
MS:
| MS ID: | MS006611 |
| Analysis ID: | AN006914 |
| Instrument Name: | ABI Sciex 5500 QTrap |
| Instrument Type: | Triple quadrupole |
| MS Type: | ESI |
| MS Comments: | MS acquisition Comments：Targeted quantitative metabolomic analysis was performed using liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) with electrospray ionization (ESI). Metabolites were quantified via triple - quadrupole mass spectrometry in MRM mode, where Q1 screened target precursor ions, precursor ions fragmented in the collision cell, and Q3 selected characteristic product ions to reduce interference. The source was operated using rapid positive/negative ion switching to achieve comprehensive coverage of a wide range of metabolite classes within a single injection. The spray voltage and source parameters were independently optimized for each polarity.Nitrogen was employed as the collision gas. Additional instrumental parameters were as follows: positive ion mode: CUR: 30（psi）; IS:5500（V）; TEM: 450°C; Gas1: 50（psi）; Gas2: 50（psi）; negative ion mode: CUR: 30（psi）; IS:- 4500（V）; TEM: 450°C; Gas1: 50（psi）; Gas2: 50（psi） Data processing Comments： After MS analysis of different samples, all chromatographic peaks were integrated for peak area, and peaks of the same metabolite in different samples were calibrated. Software used for feature assignment: Automatically identify and integrate each MRM transition using default parameters in SCIEX OS-MQ software, supplemented by manual verification |
| Ion Mode: | UNSPECIFIED |
