Summary of Study ST002825

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 PR001767. The data can be accessed directly via it's Project DOI: 10.21228/M89H98 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.

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Study IDST002825
Study TitleBrain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Study SummaryThe course of pathophysiological mechanisms involved in fragile X-associated tremor/ataxia syndrome (FXTAS) remains largely unknown. Previous proteomics and metabolomics studies conducted in blood samples collected from FMR1 premutation carriers with FXTAS reported abnormalities in energy metabolism, and precursors of gluconeogenesis showed significant changes in plasma expression levels in FMR1 premutation carriers who developed FXTAS. We conducted an analysis of postmortem human brain tissues from 44 donors, 25 brains with FXTAS, and 19 matched controls. We quantified the metabolite relative abundance in the inferior temporal gyrus and the cerebellum using untargeted mass spectrometry (MS)-based metabolomics. We investigated how the metabolite type and abundance relate to the number of cytosine-guanine-guanine (CGG) repeats, to markers of neurodegeneration, and to the symptoms of FXTAS.
Institute
University of California, Davis
Last NameMartínez-Cerdeño
First NameVerónica
Address2425 Stockton Blvd, 6th Floor, Sacramento, CA 95817
Emailvmartinezcerdeno@ucdavis.edu
Phone916-453-2163
Submit Date2023-08-22
Raw Data AvailableYes
Raw Data File Type(s)cdf
Analysis Type DetailGC-MS
Release Date2023-09-19
Release Version1
Verónica Martínez-Cerdeño Verónica Martínez-Cerdeño
https://dx.doi.org/10.21228/M89H98
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Project:

Project ID:PR001767
Project DOI:doi: 10.21228/M89H98
Project Title:Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Project Summary:The course of pathophysiological mechanisms involved in fragile X-associated tremor/ataxia syndrome (FXTAS) remains largely unknown. Previous proteomics and metabolomics studies conducted in blood samples collected from FMR1 premutation carriers with FXTAS reported abnormalities in energy metabolism, and precursors of gluconeogenesis showed significant changes in plasma expression levels in FMR1 premutation carriers who developed FXTAS. We conducted an analysis of postmortem human brain tissues from 44 donors, 25 brains with FXTAS, and 19 matched controls. We quantified the metabolite relative abundance in the inferior temporal gyrus and the cerebellum using untargeted mass spectrometry (MS)-based metabolomics. We investigated how the metabolite type and abundance relate to the number of cytosine-guanine-guanine (CGG) repeats, to markers of neurodegeneration, and to the symptoms of FXTAS.
Institute:UC Davis
Last Name:Martínez-Cerdeño
First Name:Verónica
Address:2425 Stockton Blvd, 6th Floor, Sacramento, CA 95817
Email:vmartinezcerdeno@ucdavis.edu
Phone:916-453-2163

Subject:

Subject ID:SU002934
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606

Factors:

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

mb_sample_id local_sample_id treatment
SA3056521046-10-MR-CBL_055CBL - cases
SA3056531030-09-MM-CBL_053CBL - cases
SA3056541018-08-EB-CBL_047CBL - cases
SA305655105-03-AG-CBL_034CBL - cases
SA3056561060-07-RS-CBL_071CBL - cases
SA3056571001-16-PF-CBL_057CBL - cases
SA305658334-04-KC-CBL_036CBL - cases
SA3056591015-09-DK-CBL_051CBL - cases
SA3056601052-08-WS-CBL_045CBL - cases
SA3056611041-08-IM-CBL_049CBL - cases
SA3056621004-16-SJ-CBL_061CBL - cases
SA3056631009-20-DJ-CBL_068CBL - cases
SA3056641003-16-JSE-CBL_059CBL - cases
SA3056651002-18-WH-CBL_063CBL - cases
SA3056661004-19-EA-CBL_064CBL - cases
SA3056671004-04-FS-CBL_040CBL - cases
SA3056681006-05-KW-CBL_043CBL - cases
SA3056691008-20-RF-CBL_066CBL - cases
SA3056701007-05-LL-CBL_038CBL - cases
SA3056711007-05-HP-CBL_042CBL - cases
SA3056725657-CBL_008CBL - controls
SA3056735511-CBL_012CBL - controls
SA305674UCD-17-13-CBL_001CBL - controls
SA3056753651-CBL_010CBL - controls
SA305676UCD-18-06-CBL_004CBL - controls
SA3056773642-CBL_006CBL - controls
SA305678UCD-18-05-CBL_003CBL - controls
SA305679UCD-18-04-CBL_002CBL - controls
SA305680249284-CBL_017CBL - controls
SA305681249279-CBL_014CBL - controls
SA305682249278-CBL_031CBL - controls
SA305683249277-CBL_016CBL - controls
SA305684249296-CBL_033CBL - controls
SA305685249280-CBL_020CBL - controls
SA305686249276-CBL_024CBL - controls
SA305687249290-CBL_028CBL - controls
SA305688249285-CBL_022CBL - controls
SA305689249283-CBL_026CBL - controls
SA305690Pool_03Cecal - Pool
SA305691Pool_02Cecal - Pool
SA305692Pool_01Cecal - Pool
SA305693Pool_05Cecal - Pool
SA305694Pool_04Cecal - Pool
SA305695Pool_06Cecal - Pool
SA305696Pool_08Cecal - Pool
SA305697Pool_07Cecal - Pool
SA305698105-03-AG-ITG_035ITG BA20 - cases
SA3056991046-10-MR-ITG_056ITG BA20 - cases
SA3057001052-08-WS-ITG_046ITG BA20 - cases
SA305701334-04-KC-ITG_037ITG BA20 - cases
SA3057021041-08-IM-ITG_050ITG BA20 - cases
SA3057031060-07-RS-ITG_072ITG BA20 - cases
SA3057041004-04-FS-ITG_041ITG BA20 - cases
SA3057051006-05-KW-ITG_044ITG BA20 - cases
SA3057061004-19-EA-ITG_065ITG BA20 - cases
SA3057071006-20-MS-ITG_073ITG BA20 - cases
SA3057081007-05-HP-ITG_074ITG BA20 - cases
SA3057091030-09-MM-ITG_054ITG BA20 - cases
SA3057101007-05-LL-ITG_039ITG BA20 - cases
SA3057111003-16-JSE-ITG_060ITG BA20 - cases
SA3057121004-16-SJ-ITG_062ITG BA20 - cases
SA3057131015-09-DK-ITG_052ITG BA20 - cases
SA3057141018-08-EB-ITG_048ITG BA20 - cases
SA3057151008-20-RF-ITG_067ITG BA20 - cases
SA3057161009-20-DJ-ITG_069ITG BA20 - cases
SA3057171001-16-PF-ITG_058ITG BA20 - cases
SA3057181002-18-WH-ITG_070ITG BA20 - cases
SA3057195511-BA20_011ITG BA20 - controls
SA3057205657-BA20_007ITG BA20 - controls
SA3057213651-BA20_009ITG BA20 - controls
SA305722249294-BA20_021ITG BA20 - controls
SA305723249287-BA20_015ITG BA20 - controls
SA305724249286-BA20_019ITG BA20 - controls
SA305725249282-BA20_018ITG BA20 - controls
SA305726249281-BA20_032ITG BA20 - controls
SA305727249288-BA20_029ITG BA20 - controls
SA305728249289-BA20_027ITG BA20 - controls
SA305729249295-BA20_025ITG BA20 - controls
SA305730249293-BA20_1140-BA20_030ITG BA20 - controls
SA305731249292-BA20_023ITG BA20 - controls
SA305732249291-BA20_013ITG BA20 - controls
SA3057333642-BA20_005ITG BA20 - controls
Showing results 1 to 82 of 82

Collection:

Collection ID:CO002927
Collection Summary:frozen samples
Sample Type:Brain

Treatment:

Treatment ID:TR002943
Treatment Summary:NA

Sample Preparation:

Sampleprep ID:SP002940
Sampleprep Summary:SOP GCMS-02252019

Combined analysis:

Analysis ID AN004609
Analysis type MS
Chromatography type GC
Chromatography system Agilent 7890
Column Restek Rtx-5Sil MS (30m x 0.25mm, 0.25um)
MS Type EI
MS instrument type GC-TOF
MS instrument name Leco Pegasus IV TOF
Ion Mode POSITIVE
Units normalized peak heights

Chromatography:

Chromatography ID:CH003467
Instrument Name:Agilent 7890
Column Name:Restek Rtx-5Sil MS (30m x 0.25mm, 0.25um)
Column Temperature:NA
Flow Gradient:NA
Flow Rate:1 mL/min
Solvent A:NA
Solvent B:NA
Chromatography Type:GC

MS:

MS ID:MS004355
Analysis ID:AN004609
Instrument Name:Leco Pegasus IV TOF
Instrument Type:GC-TOF
MS Type:EI
MS Comments:Mass spectrometer settings: A Leco Pegasus IV time of flight mass spectrometer is controlled by the Leco ChromaTOF software vs. 2.32 (St. Joseph, MI). The transfer line temperature between gas chromatograph and mass spectrometer is set to 280°C. Electron impact ionization at 70V is employed with an ion source temperature of 250°C. Acquisition rate is 17 spectra/second, with a scan mass range of 85-500 Da.
Ion Mode:POSITIVE
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