Document Type

Journal Article

Publication Date

1-1-2016

Journal

PLoS One

Volume

11

Issue

4

Inclusive Pages

Article Number e0153461

DOI

10.1371/journal.pone.0153461

Keywords

Biomarkers--blood; Muscular Dystrophy, Duchenne--metabolism; Muscular Dystrophy, Duchenne--pathology

Abstract

Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. Increased metabolites included arginine, creatine and unknown compounds at m/z of 357 and 312 while decreased metabolites included creatinine, androgen derivatives and other unknown yet to be identified compounds. Furthermore, the creatine to creatinine ratio is significantly associated with disease progression in DMD patients. This ratio sharply increased with age in DMD patients while it decreased with age in healthy controls. Overall, this study yielded promising metabolic signatures that could prove useful to monitor DMD disease progression and response to therapies in the future.

Comments

This article has been corrected. See PLoS One. 2016 July 19; 11(7): e0159895.

Creative Commons License

Creative Commons License
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Peer Reviewed

1

Open Access

1

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