Summary of Study ST004393
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 PR002783. The data can be accessed directly via it's Project DOI: 10.21228/M8XK1H This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.
| Study ID | ST004393 |
| Study Title | Polar metabolites profiling in Human Fragile X Syndrome (FXS) and typically developing (TD) human plasma. |
| Study Summary | Human but not mouse brain shows Fragile X mental retardation protein (FMRP)-dependent metabolic changes. Therefore, polar metabolites were measured and compared from plasma of human male with FXS (N=6) versus age-matched TD controls. A reduction of polar metabolites was found, mostly amino acids or their derivatives, TCA cycle and nucleotide metabolism intermediates. |
| Institute | UMass Chan Medical School |
| Last Name | UMass Chan |
| First Name | Spinelli Lab |
| Address | 55 Lake Avenue North, Worcester, Massachusetts, 01605, USA |
| spinellilab@gmail.com | |
| Phone | (508) 856-8989 ext. 68148 |
| Submit Date | 2025-11-12 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | mzML, raw(Thermo) |
| Analysis Type Detail | LC-MS |
| Release Date | 2025-12-01 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Project:
| Project ID: | PR002783 |
| Project DOI: | doi: 10.21228/M8XK1H |
| Project Title: | Metabolic Reprogramming during Human Neuron Differentiation Indicates Glutaminase as a Key Determinant in Fragile X Syndrome |
| Project Summary: | Metabolic homeostasis gone awry is a contributor to, if not an underlying cause of, several neurologic disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a trinucleotide repeat expansion in FMR1 and consequent loss of the encoded protein FMRP, which results in downstream molecular, neurologic, and mitochondrial deficits that are linked to cognitive impairment. In human postmortem brain, many metabolites and solute carrier proteins are coordinately dysregulated, which also occurs during differentiation of human iPSCs into excitatory neurons. Metabolic tracing in FXS neurons demonstrates a dearth of glutamine deamidation to glutamate, which reduces anaplerosis into the TCA cycle, potentially hindering bioenergetic and biosynthetic functions of mitochondria. Mechanistically, aberrant expression of glutaminase isoforms in FXS is responsible for reduced glutaminolysis, thereby altering glutamate levels which may contribute to FXS. |
| Institute: | UMass Chan Medical School |
| Last Name: | UMass Chan |
| First Name: | Richter Lab |
| Address: | 55 Lake Avenue North, Worcester, Massachusetts, 01605, USA |
| Email: | spinellilab@gmail.com |
| Phone: | (508) 856-8989 ext. 68148 |
Subject:
| Subject ID: | SU004552 |
| Subject Type: | Human |
| Subject Species: | Homo sapiens |
| Taxonomy ID: | 9606 |
| Gender: | Male |
Factors:
Subject type: Human; Subject species: Homo sapiens (Factor headings shown in green)
| mb_sample_id | local_sample_id | Sample source | Genotype |
|---|---|---|---|
| SA521164 | FXS02 | Homo Sapien Male Plasma | FXS |
| SA521165 | FXS03 | Homo Sapien Male Plasma | FXS |
| SA521166 | FXS04 | Homo Sapien Male Plasma | FXS |
| SA521167 | FXS05 | Homo Sapien Male Plasma | FXS |
| SA521168 | FXS06 | Homo Sapien Male Plasma | FXS |
| SA521169 | TD01 | Homo Sapien Male Plasma | TD |
| SA521170 | TD02 | Homo Sapien Male Plasma | TD |
| SA521171 | TD03 | Homo Sapien Male Plasma | TD |
| SA521172 | TD04 | Homo Sapien Male Plasma | TD |
| SA521173 | TD05 | Homo Sapien Male Plasma | TD |
| SA521174 | TD06 | Homo Sapien Male Plasma | TD |
| SA521175 | TD07 | Homo Sapien Male Plasma | TD |
| Showing results 1 to 12 of 12 |
Collection:
| Collection ID: | CO004545 |
| Collection Summary: | FXS plasma samples were collected at Rush University Medical Center and TD plasma samples collected at UMASS Chan Medical School. Fresh blood samples were collected in purple cap K2EDTA tubes and spun at 3000 RPM for 10 minutes at 4deg to separate the plasma. All participants or their legal guardians, as appropriate, signed informed consent to the study. |
| Sample Type: | Blood (plasma) |
Treatment:
| Treatment ID: | TR004561 |
| Treatment Summary: | No special treatment. Tissue samples were collected from patient. |
Sample Preparation:
| Sampleprep ID: | SP004558 |
| Sampleprep Summary: | For plasma, 10ul of sample was added to 90ul of 80% methanol and vortexed for 10mins before spinning to collect the supernatant containing extracted metabolites and vacuum dried. The extract was then resuspended in LC/MS grade water. |
Chromatography:
| Chromatography ID: | CH005569 |
| Instrument Name: | Thermo Vanquish |
| Column Name: | Merck SeQuant ZIC-HILIC (150 x 2.1mm,5um) |
| Column Temperature: | 25 |
| Flow Gradient: | 20 min, 80% - 20% B; 0.5 min, 20% - 80% B; 7.5min, 80% B |
| Flow Rate: | 0.15ml/min |
| Solvent A: | 100% water; 0.1% ammonium hydroxide; 20mM ammonium carbonate |
| Solvent B: | 100% acetonitrile |
| Chromatography Type: | HILIC |
Analysis:
| Analysis ID: | AN007341 |
| Analysis Type: | MS |
| Chromatography ID: | CH005569 |
| Num Factors: | 2 |
| Num Metabolites: | 63 |
| Units: | Peak area |
| Analysis ID: | AN007342 |
| Analysis Type: | MS |
| Chromatography ID: | CH005569 |
| Num Factors: | 2 |
| Num Metabolites: | 42 |
| Units: | Peak area |
