scholarly journals Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics

2019 ◽  
Vol 20 (2) ◽  
pp. 446 ◽  
Author(s):  
Abdellah Tebani ◽  
Lenaig Abily-Donval ◽  
Isabelle Schmitz-Afonso ◽  
Monique Piraud ◽  
Jérôme Ausseil ◽  
...  

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.

2020 ◽  
Author(s):  
Piyi Xing ◽  
Zhenqiao Song ◽  
Xingfeng Li

AbstractWheatgrass has emerged as a functional food source in recent years, but the detailed metabolomics basis for its health benefits remains poorly understood. In this study, liquid chromatography-mass spectrometry (LC-MS) analysis were used to study the metabolic profiling of seedlings from wheat, barley, rye and triticale, which revealed 1800 features in positive mode and 4303 features in negative mode. Principal component analysis (PCA) showed clear differences between species, and 164 differentially expressed metabolites (DEMs) were detected, including amino acids, organic acids, lipids, fatty acids, nucleic acids, flavonoids, amines, polyamines, vitamins, sugar derivatives and others. Unique metabolites in each species were identified. This study provides a glimpse into the metabolomics profiles of wheat and its wild relatives, which may form an important basis for nutrition, health and other parameters.Practical ApplicationThis manuscript present liquid chromatography-mass spectrometry (LC-MS) results of young sprouts of common wheat and its relatives. Our results may help to better understand the natural variation due to the genotype before metabolomics data are considered for application to wheatgrass and can provide a basis (assessment) for its potential pharmaceutical and nutritional value.


RSC Advances ◽  
2019 ◽  
Vol 9 (61) ◽  
pp. 35429-35442
Author(s):  
Fu-jiang Zhao ◽  
Zhao-bo Zhang ◽  
Ning Ma ◽  
Xiao Teng ◽  
Zhen-cheng Cai ◽  
...  

Liquid chromatography coupled with mass spectrometry has been used as metabolomics profiling tool to discover and identify the metabolites in metabolic diseases.


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