Summary of Study ST004266

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 PR002693. The data can be accessed directly via it's Project DOI: 10.21228/M8JR8G 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 IDST004266
Study TitleUNTARGETED METABOLOMIC AND LIPIDOMIC PROFILING IN CYSTIC FIBROSIS PATIENTS USING UPLC-QTOF-MS
Study SummaryLiquid chromatography (LC) coupled with time-of-flight mass spectrometry (TOF-MS) was employed to discriminate the 24 cystic fibrosis patients from the 26 age and gender-matched healthy controls. Multivariate statistical and pathway enrichment analyses revealed dysregulation in galactose metabolism, glycolysis/gluconeogenesis, bile acid, fatty acid metabolism, steroid hormone biosynthesis, and amino acid catabolism. The quantification of identified cystic fibrosis biomarkers identified by the combined lipidomic and metabolomic analyses will be valuable for early diagnosis and for assessing treatment.The combined metabolomic and lipidomic profiling of plasma from CF patients uncovers metabolic dysregulations underlying major aspects of the pathophysiology of the disease. Significant upregulation and downregulation of hundreds of metabolites in both ionization modes point to a complex biochemical profile marked by oxidative stress, chronic inflammation, immune dysregulation, impaired lipid metabolism, and altered energy production. Disruption of glutathione homeostasis, elevated oxidized amino acids, and accumulation of eicosanoid-containing phospholipids and bioactive lipids (e.g., leukotrienes, prostaglandins, thromboxanes) indicate increased oxidative damage and inflammatory signaling. Furthermore, altered levels of di- and triacylglycerols, bile acid conjugates, and bacterial lipid derivatives suggest pancreatic insufficiency, hepatic involvement, and chronic microbial colonization, hallmarks of advanced CF pathology. Pathway analysis confirmed the dysregulation of critical metabolic routes, including galactose metabolism, glycolysis/gluconeogenesis, bile acid and fatty acid metabolism, steroid hormone biosynthesis, and amino acid catabolism. These impairments are strongly associated to with clinical features of CF like mucus hypersecretion, malnutrition, immune dysfunction, insulin resistance, and vitamin D deficiency. The results underscore the potential of metabolomic and lipidomic biomarkers to enhance our understanding of CF disease mechanisms. They offer promising avenues for early diagnosis, patient stratification, and the development of personalized interventions aimed at restoring metabolic balance and reducing disease progression.
Institute
Université de Sherbrooke
DepartmentPediatrics/Genetics service
LaboratoryCentre d’expertise en spectrométrie de masse clinique Waters-CHUS
Last NameFARJALLAH
First NameASMA
Address3001, 12e Avenue Nord, Sherbrooke, Québec, Canada
Emailasma.farjallah@usherbrooke.ca
Phone8193452671
Submit Date2025-09-26
Raw Data AvailableYes
Raw Data File Type(s)mzML
Analysis Type DetailLC-MS
Release Date2025-10-10
Release Version1
ASMA FARJALLAH ASMA FARJALLAH
https://dx.doi.org/10.21228/M8JR8G
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

Select appropriate tab below to view additional metadata details:

Project:

Project ID:PR002693
Project DOI:doi: 10.21228/M8JR8G
Project Title:UNTARGETED METABOLOMIC AND LIPIDOMIC PROFILING IN CYSTIC FIBROSIS PATIENTS USING UPLC-QTOF-MS
Project Type:Untargeted analysis
Project Summary:Cystic fibrosis (CF), also known as mucoviscidosis, is a rare autosomal recessive genetic disease. It is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which disrupts the normal function of the chloride ion channel. Clinical manifestations of CF typically include recurrent respiratory infections, chronic airway inflammation, progressive decline in lung function, and intermittent pulmonary exacerbations. The primary aim of our study is to identify plasma biomarkers in patients with cystic fibrosis through untargeted metabolomic and lipidomic analyses, with the goal of enabling early detection, accurate diagnosis, and effective monitoring of the disease.
Institute:Université de Sherbrooke
Department:PEDIATRICS/ Genetics service
Laboratory:Centre d’expertise en spectrométrie de masse clinique Waters-CHUS
Last Name:FARJALLAH
First Name:ASMA
Address:3001, 12e Avenue Nord, Sherbrooke, Québec, Canada
Email:asma.farjallah@usherbrooke.ca
Phone:8193452671

Subject:

Subject ID:SU004419
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Age Or Age Range:29-34
Gender:Male and female

Factors:

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

mb_sample_id local_sample_id Group Sample source
SA49746420250319_FK_17CHC Plasma
SA49746520250604_FK_POS_9CHC Plasma
SA49746620250604_FK_POS_7CHC Plasma
SA49746720250604_FK_POS_6CHC Plasma
SA49746820250604_FK_POS_4CHC Plasma
SA49746920250604_FK_POS_3CHC Plasma
SA49747020250604_FK_POS_2CHC Plasma
SA49747120250604_FK_POS_1CHC Plasma
SA49747220250319_FK_23CHC Plasma
SA49747320250319_FK_22CHC Plasma
SA49747420250319_FK_21CHC Plasma
SA49747520250319_FK_20CHC Plasma
SA49747620250319_FK_18CHC Plasma
SA49747720250319_FK_16CHC Plasma
SA49747820250604_FK_POS_12CHC Plasma
SA49747920250319_FK_15CHC Plasma
SA49748020250319_FK_14CHC Plasma
SA49748120250319_FK_13CHC Plasma
SA49748220250319_FK_12CHC Plasma
SA49748320250319_FK_11CHC Plasma
SA49748420250319_FK_10CHC Plasma
SA49748520250319_FK_9CHC Plasma
SA49748620250319_FK_8CHC Plasma
SA49748720250319_FK_7CHC Plasma
SA49748820250319_FK_6CHC Plasma
SA49748920250319_FK_5CHC Plasma
SA49749020250319_FK_4CHC Plasma
SA49749120250319_FK_3CHC Plasma
SA49749220250604_FK_POS_10CHC Plasma
SA49749320250604_FK_POS_13CHC Plasma
SA49749420250319_FK_1CHC Plasma
SA49749520250611_FK_NEG_9CHC Plasma
SA49749620250611_FK_NEG_23CHC Plasma
SA49749720250611_FK_NEG_22CHC Plasma
SA49749820250611_FK_NEG_21CHC Plasma
SA49749920250611_FK_NEG_20CHC Plasma
SA49750020250611_FK_NEG_19CHC Plasma
SA49750120250611_FK_NEG_18CHC Plasma
SA49750220250611_FK_NEG_17CHC Plasma
SA49750320250611_FK_NEG_16CHC Plasma
SA49750420250611_FK_NEG_15CHC Plasma
SA49750520250611_FK_NEG_13CHC Plasma
SA49750620250611_FK_NEG_12CHC Plasma
SA49750720250611_FK_NEG_10CHC Plasma
SA49750820250611_FK_NEG_7CHC Plasma
SA49750920250604_FK_POS_15CHC Plasma
SA49751020250611_FK_NEG_6CHC Plasma
SA49751120250611_FK_NEG_4CHC Plasma
SA49751220250611_FK_NEG_3CHC Plasma
SA49751320250611_FK_NEG_2CHC Plasma
SA49751420250611_FK_NEG_1CHC Plasma
SA49751520250604_FK_POS_23CHC Plasma
SA49751620250604_FK_POS_22CHC Plasma
SA49751720250604_FK_POS_21CHC Plasma
SA49751820250604_FK_POS_20CHC Plasma
SA49751920250604_FK_POS_19CHC Plasma
SA49752020250604_FK_POS_18CHC Plasma
SA49752120250604_FK_POS_17CHC Plasma
SA49752220250604_FK_POS_16CHC Plasma
SA49752320250319_FK_2CHC Plasma
SA49752420250319_FK_19CHC Plasma
SA49752520250128_FK_14CHC Plasma
SA49752620250128_FK_17CHC Plasma
SA49752720250128_FK_3CHC Plasma
SA49752820250128_FK_23CHC Plasma
SA49752920250128_FK_22CHC Plasma
SA49753020250128_FK_21CHC Plasma
SA49753120250128_FK_4CHC Plasma
SA49753220250128_FK_20CHC Plasma
SA49753320250128_FK_19CHC Plasma
SA49753420250128_FK_18CHC Plasma
SA49753520250128_FK_16CHC Plasma
SA49753620250128_FK_1CHC Plasma
SA49753720250128_FK_15CHC Plasma
SA49753820250128_FK_5CHC Plasma
SA49753920250128_FK_13CHC Plasma
SA49754020250128_FK_12CHC Plasma
SA49754120250128_FK_11CHC Plasma
SA49754220250128_FK_10CHC Plasma
SA49754320250128_FK_9CHC Plasma
SA49754420250128_FK_8CHC Plasma
SA49754520250128_FK_2CHC Plasma
SA49754620250128_FK_7CHC Plasma
SA49754720250128_FK_6CHC Plasma
SA49754820250128_FK_1-24Untreated Plasma
SA49754920250604_FK_POS_1-36Untreated Plasma
SA49755020250128_FK_1-33Untreated Plasma
SA49755120250128_FK_1-32Untreated Plasma
SA49755220250128_FK_1-31Untreated Plasma
SA49755320250128_FK_1-30Untreated Plasma
SA49755420250128_FK_1-29Untreated Plasma
SA49755520250128_FK_1-28Untreated Plasma
SA49755620250128_FK_1-26Untreated Plasma
SA49755720250128_FK_1-23Untreated Plasma
SA49755820250128_FK_1-10Untreated Plasma
SA49755920250128_FK_1-22Untreated Plasma
SA49756020250128_FK_1-21Untreated Plasma
SA49756120250128_FK_1-20Untreated Plasma
SA49756220250128_FK_1-19Untreated Plasma
SA49756320250128_FK_1-18Untreated Plasma
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Collection:

Collection ID:CO004412
Collection Summary:A total of 50 plasma samples were collected: 24 samples from healthy controls (non-CF subjects) and 26 plasma samples from untreated individuals with CF. After collection, plasma samples were stored at -80°C.
Sample Type:Blood (plasma)
Storage Conditions:-80℃

Treatment:

Treatment ID:TR004428
Treatment Summary:After collection, plasma samples were stored at -80°C.

Sample Preparation:

Sampleprep ID:SP004425
Sampleprep Summary:For metabolomic sample preparation, 100 µL of MeOH was added into 100 µl of plasma sample for protein precipitation. After vortex for 30 seconds and centrifugation at 13 000 g for 10 minutes, the supernatant was evaporated and reconstituted in 200 µL of (ACN: H2O) (85:15). A pooled quality control (QC) was prepared by mixing 10 µL of each sample before injection. For lipidomic analysis, extraction of plasma lipids was carried out using Matyash modified protocol using a liquid-liquid extraction method. Fifty µL of plasma was combined with 600 µL of MTBE and 200 µL of MeOH.11-18 The mixture was vortexed for 30 seconds to ensure thorough mixing. The samples were afterwards incubated for 20 minutes at 15°C with continuous agitation at 300 rpm. After incubation, 180 µL of water was added to the mixture. The plasma samples were vortexed for 30 seconds to ensure homogeneity. Subsequently, the plasma samples were centrifuged at 15 000×g for 10 minutes to separate the phases. One hundred µL of the upper organic phase was carefully collected and evaporated under a stream of nitrogen to remove the solvent completely. The dried residue was then reconstituted in 200 µL of MeOH. A pooled quality control (QC) was prepared by mixing 10 µL of each sample before injection.
Processing Storage Conditions:Room temperature
Extract Storage:-80℃

Chromatography:

Chromatography ID:CH005392
Instrument Name:Acquity UPLC waters
Column Name:Waters ACQUITY UPLC BEH HILIC (100 x 2.1mm,1.7um)
Column Temperature:40°C
Flow Gradient:0-3 min → 100% B 3-8 min → 100 to 20% B 8-10 min → 100 to 40% B 10-13 min→ 100% B 13-20 min →100% B
Flow Rate:0.3 mL/min
Solvent A:5 mM NH4COOH in H2O:ACN (90:10)+0.1 % FA
Solvent B:5 mM NH4COOH in ACN:H2O (90:10)+ 0.1 % FA
Chromatography Type:HILIC
  
Chromatography ID:CH005393
Chromatography Summary:ESI POSITIVE
Instrument Name:Waters Acquity
Column Name:Waters ACQUITY UPLC BEH C18 (100 x 2.1 mm, 1.7 µm)
Column Temperature:40°C
Flow Gradient:0-2 min → 30% B 2-2.6 min → 48% B 2.6-11 min → 82% B 11-11.6 min→ 99% B 11.6-12 min →99% B 12-12.2 min→ 15% B 12.2-15 min →15% B
Flow Rate:0.35 mL/min
Solvent A:10 mM NH4COOH in ACN:H2O (60:40) +0.1 % FA
Solvent B:10 mM NH4COOH in IPA:ACN:H2O (90:10:0.1) +0.1 % FA/
Chromatography Type:Reversed phase
  
Chromatography ID:CH005394
Chromatography Summary:ESI NEGATIVE
Instrument Name:Waters Acquity
Column Name:Waters ACQUITY UPLC BEH C18 (100 x 2.1mm,1.7um)
Column Temperature:40°C
Flow Gradient:0-2 min → 30% B 2-2.6 min → 48% B 2.6-11 min → 82% B 11-11.6 min→ 99% B 11.6-12 min →99% B 12-12.2 min→ 15% B 12.2-15 min →15% B
Flow Rate:0.35 mL/min
Solvent A:10 mM CH3CO2NH4 in ACN:H2O (60:40) +0.1 % AcOH
Solvent B:10 mM CH3CO2NH4 in IPA:ACN:H2O (90:10:0.1) +0.1 % AcOH
Chromatography Type:Reversed phase
  
Chromatography ID:CH005395
Chromatography Summary:ESI NEGATIVE
Instrument Name:Waters Acquity
Column Name:Waters ACQUITY UPLC BEH HILIC (100 x 2.1mm,1.7um)
Column Temperature:40°C
Flow Gradient:0-3 min → 100% B 3-8 min → 100 to 20% B 8-10 min → 100 to 40% B 10-13 min→ 100% B 13-20 min →100% B
Flow Rate:0.3 mL/min
Solvent A:90% Water/10% Acetonitrile; 5mM Ammonium formate; 0.1% Formic acid
Solvent B:90% Acetonitrile/10% Water; 5mM Ammonium formate; 0.1% Formic acid
Chromatography Type:HILIC

Analysis:

Analysis ID:AN007099
Analysis Type:MS
Chromatography ID:CH005392
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST004266_AN007099_Results.txt
Units:intensity
  
Analysis ID:AN007100
Analysis Type:MS
Chromatography ID:CH005393
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST004266_AN007100_Results.txt
Units:intensity
  
Analysis ID:AN007101
Analysis Type:MS
Chromatography ID:CH005394
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST004266_AN007101_Results.txt
Units:intensity
  
Analysis ID:AN007102
Analysis Type:MS
Chromatography ID:CH005395
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST004266_AN007102_Results.txt
Units:intensity
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