{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lindsay A"],"funding":["Arkansas Humanities Council","University of Minnesota","National Institutes of Health","NIAMS NIH HHS","Muscular Dystrophy Association"],"pagination":["942-951"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6400043"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["28(6)"],"pubmed_abstract":["Duchenne muscular dystrophy is a deadly muscle-wasting disorder caused by loss of dystrophin protein. Studies suggest that metabolic alterations are important to disease pathogenesis. Because muscle accounts for ~40% of body mass, we hypothesized that dystrophy-mediated metabolic changes would be measurable in biofluids and that a metabolomic analysis of urine would provide insight into the metabolic status of dystrophic muscle. Using the mdx mouse model, we performed a large-scale metabolomic screen at 1 and 3 months. While 10% of metabolites were altered at age 1 month, 40% were changed at 3 months. Principal component analysis distinguished wild-type from mdx animals, with the greatest separation at 3 months. A critical distinguishing pathway was Krebs cycle metabolite depletion in mdx "],"journal":["Human molecular genetics"],"pubmed_title":["Dystrophinopathy-associated dysfunction of Krebs cycle metabolism."],"pmcid":["PMC6400043"],"funding_grant_id":["R01 AR049899","RO1 AR049899","R01 AR042423","RO1 AR042423","349549"],"pubmed_authors":["Lowe DA","Witthuhn BA","Chamberlain CM","Lindsay A","Ervasti JM"],"additional_accession":[]},"is_claimable":false,"name":"Dystrophinopathy-associated dysfunction of Krebs cycle metabolism.","description":"Duchenne muscular dystrophy is a deadly muscle-wasting disorder caused by loss of dystrophin protein. Studies suggest that metabolic alterations are important to disease pathogenesis. Because muscle accounts for ~40% of body mass, we hypothesized that dystrophy-mediated metabolic changes would be measurable in biofluids and that a metabolomic analysis of urine would provide insight into the metabolic status of dystrophic muscle. Using the mdx mouse model, we performed a large-scale metabolomic screen at 1 and 3 months. While 10% of metabolites were altered at age 1 month, 40% were changed at 3 months. Principal component analysis distinguished wild-type from mdx animals, with the greatest separation at 3 months. A critical distinguishing pathway was Krebs cycle metabolite depletion in mdx ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Mar","modification":"2025-04-22T03:01:18.02Z","creation":"2020-05-22T12:20:54Z"},"accession":"S-EPMC6400043","cross_references":{"pubmed":["30476171"],"doi":["10.1093/hmg/ddy404"]}}