Title :

Analysis of mucopolysaccharidosis type vi through integrative functional metabolomics

Author(s) :

Tebani, Abdellah [Auteur]
Université de Rouen Normandie [UNIROUEN]
CHU Rouen
Abily-Donval, Lenaig [Auteur]
Université de Rouen Normandie [UNIROUEN]
CHU Rouen
Schmitz-Afonso, Isabelle [Auteur]
Chimie Organique et Bioorganique : Réactivité et Analyse [COBRA]
Piraud, Monique [Auteur]
Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] [Centre de Biologie et de Pathologie]
Ausseil, Jerome [Auteur]
CHU Amiens-Picardie
Zerimech, Farid [Auteur]
IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
Pilon, Carine [Auteur]
Université de Rouen Normandie [UNIROUEN]
Pereira, Tony [Auteur]
Université de Rouen Normandie [UNIROUEN]
CHU Rouen
Marret, Stephane [Auteur]
Université de Rouen Normandie [UNIROUEN]
Service de Pédiatrie Néonatale et Réanimation – Neuropédiatrie [CHU Rouen]
Afonso, Carlos [Auteur]
Université de Rouen Normandie [UNIROUEN]
Chimie Organique et Bioorganique : Réactivité et Analyse [COBRA]
Bekri, Soumeya [Auteur]
Université de Rouen Normandie [UNIROUEN]
CHU Rouen

Journal title :

International journal of molecular sciences

Abbreviated title :

Int J Mol Sci

Volume number :

20

Pages :

446

Publisher :

MDPI

Publication date :

2019-01-21

ISSN :

1422-0067

Keyword(s) :

mucopolysaccharidosis type VI
inherited metabolic diseases
metabolomics
mass spectrometry
Maroteaux-Lamy syndrome
lysosomal storage diseases

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Metabolic phenotyping is poised as a powerful and promising tool for biomarker discovery in inherited metabolic diseases. However, few studies applied this approach to mcopolysaccharidoses (MPS). Thus, this innovative ...
Show more >Metabolic phenotyping is poised as a powerful and promising tool for biomarker discovery in inherited metabolic diseases. However, few studies applied this approach to mcopolysaccharidoses (MPS). Thus, this innovative functional approach may unveil comprehensive impairments in MPS biology. This study explores mcopolysaccharidosis VI (MPS VI) or Maroteaux⁻Lamy syndrome (OMIM #253200) which is an autosomal recessive lysosomal storage disease caused by the deficiency of arylsulfatase B enzyme. Urine samples were collected from 16 MPS VI patients and 66 healthy control individuals. Untargeted metabolomics analysis was applied using ultra-high-performance liquid chromatography combined with ion mobility and high-resolution mass spectrometry. Furthermore, dermatan sulfate, amino acids, carnitine, and acylcarnitine profiles were quantified using liquid chromatography coupled to tandem mass spectrometry. Univariate analysis and multivariate data modeling were used for integrative analysis and discriminant metabolites selection. Pathway analysis was done to unveil impaired metabolism. The study revealed significant differential biochemical patterns using multivariate data modeling. Pathway analysis revealed that several major amino acid pathways were dysregulated in MPS VI. Integrative analysis of targeted and untargeted metabolomics data with in silico results yielded arginine-proline, histidine, and glutathione metabolism being the most affected. This study is one of the first metabolic phenotyping studies of MPS VI. The findings might shed light on molecular understanding of MPS pathophysiology to develop further MPS studies to enhance diagnosis and treatments of this rare condition.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Institut Pasteur de Lille
Université de Lille

Collections :

• IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

Submission date :

2022-02-02T10:23:51Z
2022-11-09T10:27:25Z