Summary of Study ST004397

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.

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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.

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Study IDST004397
Study Title[¹³C₅,¹⁵N₂]-glutamine stable isotope tracing in TD, FXS2 (partial FMRP), and FXS1 (no FMRP) from Lymphoblastoid cell lines (LCL)
Study SummaryFragile X mental retardation protein (FMRP) regulates glutamine catabolism. To investigate Gln utilization in Fragile X Syndrome (FXS) patient-derived lymphoblast cell lines (LCLs), [¹³C₅,¹⁵N₂]-glutamine stable isotope tracing was performed in TD, FXS2 (partial FMRP), and FXS1 (no FMRP) from Lymphoblastoid cell lines (LCL) for 8 hours and collect polar metabolites for analysis. These data demonstrate the sufficiency for FMRP splicing to alter glutamine breakdown.
Institute
UMass Chan Medical School
Last NameUMass Chan
First NameSpinelli Lab
Address55 Lake Avenue North, Worcester, Massachusetts, 01605, USA
Emailspinellilab@gmail.com
Phone(508) 856-8989 ext. 68148
Submit Date2025-11-12
Raw Data AvailableYes
Raw Data File Type(s)mzML, raw(Thermo)
Analysis Type DetailLC-MS
Release Date2025-12-01
Release Version1
Spinelli Lab UMass Chan Spinelli Lab UMass Chan
https://dx.doi.org/10.21228/M8XK1H
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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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:SU004556
Subject Type:Cultured cells
Subject Species:Homo sapiens
Taxonomy ID:9606
Gender:Male

Factors:

Subject type: Cultured cells; Subject species: Homo sapiens (Factor headings shown in green)

mb_sample_id local_sample_id Sample source Genotype
SA521197Blank MediaCell culture lines media media blank with 13C515N2-gln
SA521207cell FXS2 3Male Homo sapien Lymphoblastoid cell lines FXS
SA521208cell FXS2 2Male Homo sapien Lymphoblastoid cell lines FXS
SA521209cell FXS2 1Male Homo sapien Lymphoblastoid cell lines FXS
SA521210cell FXS1 3Male Homo sapien Lymphoblastoid cell lines FXS
SA521211cell FXS1 2Male Homo sapien Lymphoblastoid cell lines FXS
SA521212cell FXS1 1Male Homo sapien Lymphoblastoid cell lines FXS
SA521213cell WT4 2Male Homo sapien Lymphoblastoid cell lines TD
SA521214cell WT4 3Male Homo sapien Lymphoblastoid cell lines TD
SA521215cell WT4 1Male Homo sapien Lymphoblastoid cell lines TD
SA521198media FXS2 3Male Homo sapien Lymphoblastoid cell lines media FXS
SA521199media FXS2 2Male Homo sapien Lymphoblastoid cell lines media FXS
SA521200media FXS2 1Male Homo sapien Lymphoblastoid cell lines media FXS
SA521201media FXS1 3Male Homo sapien Lymphoblastoid cell lines media FXS
SA521202media FXS1 2Male Homo sapien Lymphoblastoid cell lines media FXS
SA521203media FXS1 1Male Homo sapien Lymphoblastoid cell lines media FXS
SA521204media WT4 2Male Homo sapien Lymphoblastoid cell lines media TD
SA521205media WT4 3Male Homo sapien Lymphoblastoid cell lines media TD
SA521206media WT4 1Male Homo sapien Lymphoblastoid cell lines media TD
Showing results 1 to 19 of 19

Collection:

Collection ID:CO004549
Collection Summary:Lymphoblastoid cell lines (LCLs) were obtained from the Coriell Institute, including three from individuals with Fragile X Syndrome (GM07365 (FXS1), GM03200 (FXS3) and GM06897 (FXS2)) and two from typically developing male controls (GM24086 (WT6) and GM06890 (WT4)).
Sample Type:Cultured cells, Culture media

Treatment:

Treatment ID:TR004565
Treatment Summary:Cells were cultured in glutamine free RPMI 1640 medium (Sigma-Aldrich) supplemented with 15% fetal bovine serum (FBS) and 2mM L-Glutamine-13C5,15N2 (Catalog#607983, Millipore Sigma) for 8 hours, maintained at 37°C with 5% CO₂ in T25 flasks.

Sample Preparation:

Sampleprep ID:SP004562
Sampleprep Summary:For extraction from ccell pellets from in-vitro cultures, samples were incubated on dry ice with cold 80% methanol. The extracts were spun down and the supernatant was vacuum dried before resuspending in LC/MS grade water.

Chromatography:

Chromatography ID:CH005573
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:AN007349
Analysis Type:MS
Chromatography ID:CH005573
Num Factors:5
Num Metabolites:12
Units:Peak area
  
Analysis ID:AN007350
Analysis Type:MS
Chromatography ID:CH005573
Num Factors:5
Num Metabolites:45
Units:Peak area
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