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Discovery of metabolic biomarkers for Duchenne muscular dystrophy within a natural history study

Boca, SM and Nishida, M and Harris, M and Rao, S and Cheema, AK and Gill, K and Seol, H and Morgenroth, LP and Henricson, E and McDonald, C and Mah, JK and Clemens, PR and Hoffman, EP and Hathout, Y and Madhavan, S (2016) Discovery of metabolic biomarkers for Duchenne muscular dystrophy within a natural history study. PLoS ONE, 11 (4).

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Boca, SM
Nishida, M
Harris, M
Rao, S
Cheema, AK
Gill, K
Seol, H
Morgenroth, LP
Henricson, E
McDonald, C
Mah, JK
Clemens, PRpclemens@pitt.eduPCLEMENS
Hoffman, EP
Hathout, Y
Madhavan, S
ContributionContributors NameEmailPitt UsernameORCID
Date: 1 April 2016
Date Type: Publication
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Journal or Publication Title: PLoS ONE
Volume: 11
Number: 4
DOI or Unique Handle: 10.1371/journal.pone.0153461
Institution: University of Pittsburgh
Schools and Programs: School of Medicine > Neurology
Refereed: Yes
Article Type: Review
Date Deposited: 31 Aug 2016 17:30
Last Modified: 30 Mar 2021 12:55


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