Summary of Study ST000223

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 PR000183. The data can be accessed directly via it's Project DOI: 10.21228/M8GK50 This work is supported by NIH grant, U2C- DK119886.

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Study IDST000223
Study TitleMetabolic Aberrations in Barth Syndrome
Study TypeMetabolomic analysis of plasma samples
Study Summary1) Characterize plasma metabolome in Barth Syndrome 2) To implement targeted, quantitative studies on prospective biomarkers and metabolites of interest derived from the non-targeted phase.
Institute
University of North Carolina
DepartmentDiscovery Science Technology
LaboratorySumner Lab
Last NameSumner
First NameSusan
AddressEastern Regional Comprehensive Metabolomics Resource Core, UNC Nutrition Research Institute, 500 Laureate Way, Kannapolis, NC, 28081
Emailsusan_sumner @unc.edu
Phone704-250-5066
Submit Date2015-06-29
Num Groups2
Total Subjects37
Raw Data AvailableYes
Raw Data File Type(s)fid
Uploaded File Size16 M
Analysis Type DetailNMR
Release Date2016-07-08
Release Version1
Susan Sumner Susan Sumner
https://dx.doi.org/10.21228/M8GK50
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Project:

Project ID:PR000183
Project DOI:doi: 10.21228/M8GK50
Project Title:Metabolic Aberrations in Barth Syndrome
Project Type:Metabolomics
Project Summary:The overall objective of thispilot research project is to investigate metabolic mechanisms involved in disturbed intermediary metabolism in Barth Syndrome. Barth Syndrome (BTHS) is x-linked disorder characterized mainly by dilated cardiomyopathy, skeletal muscle weakness and neutropenia. BTHS is caused by defects in Tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin, a critical phospholipid of the mitochondrial inner membrane. While a few comprehensive clinical studies of BTHS have been published detailing its cardiac and hematologic features, descriptions of its biochemical characteristics are limited.
Institute:Johns Hopkins University
Department:Department of Pediatrics
Last Name:Vernon
First Name:Hilary
Address:733 N. Broadway St., Baltimore, MD 21205
Email:hvernon1@jhmi.edu
Phone:(443) 923-2783

Subject:

Subject ID:SU000242
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Species Group:Human

Factors:

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

mb_sample_id local_sample_id Type
SA010748SVM0323Case
SA010749SVM0402Case
SA010750SVM0406Case
SA010751SVM0408Case
SA010752SVM0322Case
SA010753SVM0321Case
SA010754SVM0312Case
SA010755SVM0315Case
SA010756SVM0319Case
SA010757SVM0416Case
SA010758SVM0420Case
SA010759SVM0514Case
SA010760SVM0517Case
SA010761SVM0518Case
SA010762SVM0511Case
SA010763SVM0507Case
SA010764SVM0501Case
SA010765SVM0503Case
SA010766SVM0504Case
SA010767SVM0310Case
SA010768SVM0213Case
SA010769SVM0205Case
SA010770SVM0109Case
SA010771SVCM0308Control
SA010772SVCM0313Control
SA010773SVCM0307Control
SA010774SVCM0301Control
SA010775SVCM0221Control
SA010776SVCM0315Control
SA010777SVCM0305Control
SA010778SVCM0403Control
SA010779SVCM0511Control
SA010780SVCM0520Control
SA010781SVCM0418Control
SA010782SVCM0419Control
SA010783SVCM0417Control
SA010784SVCM0416Control
SA010785SVPool_2Pool
SA010786SVPool_3Pool
SA010787SVPool_1Pool
Showing results 1 to 40 of 40

Collection:

Collection ID:CO000230
Collection Summary:All participants have been carefully phenotyped and have a molecular confirmation of BTHS. In order to mitigate the potential effects of intercurrent illness in individual patients, plasma samples were collected under controlled conditions, while the patient is in a homeostatic state of wellness (outpatient setting). We controlled for nutritional effects by selecting samples hta thave amino acid profiles consistent with 4-6 hours of fasting. All samples were collected in an EDTA treated collection tube, plasma was separated via centrifugation and has been stored in a controlled setting at -80 degrees Celsius since collection.
Sample Type:Blood

Treatment:

Treatment ID:TR000250
Treatment Summary:none

Sample Preparation:

Sampleprep ID:SP000244
Sampleprep Summary:Aliquots of plasma samples (125 µL) were transferred into pre-labeled 2.0 mL low-bind Eppendorf tubes for experimental samples. For all samples 125 µL of 0.9% Saline in D2O (containing 2 mM Formate (chemical shift indicator) and 0.2% NaN3 (to prevent bacterial growth)) was added to each tube and were vortexed for 2 min at 5000 rpm. The samples were then centrifuged at 16,000 rcf for 2 min. Total pools of the samples were prepared (by using 12 µL of each study sample) to serve as QC samples, and 125 µL aliquots of QC samples were processed in the same way as described above for study samples. A 200 µL aliquot of the samples were then transferred into 3 mm NMR tubes (Bruker-Biospin, Switzerland), which were kept in a cooler with freeze packs until data acquisition.
Processing Storage Conditions:4°C
Sample Resuspension:0.9% Saline in D2O
Sample Spiking:Formate

Analysis:

Analysis ID:AN000332
Laboratory Name:DHMRI
Analysis Type:NMR
Software Version:Top Spin 3.2
Operator Name:Keven Knagge, Wimal Pathmasiri
Randomization Order:Yes
Detector Type:NMR
Data Format:Bruker FID
Chromatography ID:CH000249
Num Factors:3

NMR:

NMR ID:NM000053
Analysis ID:AN000332
Instrument Name:Bruker Avance III
Instrument Type:FT-NMR
NMR Experiment Type:1D 1H
Pulse Sequence:Yes
Pulse Width:41967
Power Level:Deuterium
Receiver Gain:1 mM (Formate)
Offset Frequency:950 MHz
Presaturation Power Level:5mm Cryogenically Cooled ATMA
Chemical Shift Ref Cpd:D20
Temperature:5mm
Number Of Scans:Topshim (Gradient)
Dummy Scans:cpmgpr1d
Acquisition Time:yes
Relaxation Delay:8.11
Spectral Width:12.589 W
Num Data Points Acquired:4
Real Data Points:4468.1 Hz
Zero Filling:Formate
Apodization:298 K
Baseline Correction Method:128
Chemical Shift Ref Std:16
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