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.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Study ID | ST000223 |
| Study Title | Metabolic Aberrations in Barth Syndrome |
| Study Type | Metabolomic analysis of plasma samples |
| Study Summary | 1) 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 |
| Department | Discovery Science Technology |
| Laboratory | Sumner Lab |
| Last Name | Sumner |
| First Name | Susan |
| Address | Eastern Regional Comprehensive Metabolomics Resource Core, UNC Nutrition Research Institute, 500 Laureate Way, Kannapolis, NC, 28081 |
| susan_sumner @unc.edu | |
| Phone | 704-250-5066 |
| Submit Date | 2015-06-29 |
| Num Groups | 2 |
| Total Subjects | 37 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | fid |
| Uploaded File Size | 16 M |
| Analysis Type Detail | NMR |
| Release Date | 2016-07-08 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
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 |
|---|---|---|
| SA010748 | SVM0323 | Case |
| SA010749 | SVM0402 | Case |
| SA010750 | SVM0406 | Case |
| SA010751 | SVM0408 | Case |
| SA010752 | SVM0322 | Case |
| SA010753 | SVM0321 | Case |
| SA010754 | SVM0312 | Case |
| SA010755 | SVM0315 | Case |
| SA010756 | SVM0319 | Case |
| SA010757 | SVM0416 | Case |
| SA010758 | SVM0420 | Case |
| SA010759 | SVM0514 | Case |
| SA010760 | SVM0517 | Case |
| SA010761 | SVM0518 | Case |
| SA010762 | SVM0511 | Case |
| SA010763 | SVM0507 | Case |
| SA010764 | SVM0501 | Case |
| SA010765 | SVM0503 | Case |
| SA010766 | SVM0504 | Case |
| SA010767 | SVM0310 | Case |
| SA010768 | SVM0213 | Case |
| SA010769 | SVM0205 | Case |
| SA010770 | SVM0109 | Case |
| SA010771 | SVCM0308 | Control |
| SA010772 | SVCM0313 | Control |
| SA010773 | SVCM0307 | Control |
| SA010774 | SVCM0301 | Control |
| SA010775 | SVCM0221 | Control |
| SA010776 | SVCM0315 | Control |
| SA010777 | SVCM0305 | Control |
| SA010778 | SVCM0403 | Control |
| SA010779 | SVCM0511 | Control |
| SA010780 | SVCM0520 | Control |
| SA010781 | SVCM0418 | Control |
| SA010782 | SVCM0419 | Control |
| SA010783 | SVCM0417 | Control |
| SA010784 | SVCM0416 | Control |
| SA010785 | SVPool_2 | Pool |
| SA010786 | SVPool_3 | Pool |
| SA010787 | SVPool_1 | Pool |
| 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 |
