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- W3136308065 abstract "Arrhythmogenic cardiomyopathy (ACM) is a genetic-based cardiac disease accompanied by severe ventricular arrhythmias and a progressive substitution of the myocardium with fibro-fatty tissue. ACM is often associated with sudden cardiac death. Due to the reduced penetrance and variable expressivity, the presence of a genetic defect is not conclusive, thus complicating the diagnosis of ACM. Recent studies on human induced pluripotent stem cells-derived cardiomyocytes (hiPSC-CMs) obtained from ACM individuals showed a dysregulated metabolic status, leading to the hypothesis that ACM pathology is characterized by an impairment in the energy metabolism. However, despite efforts having been made for the identification of ACM specific biomarkers, there is still a substantial lack of information regarding the whole metabolomic profile of ACM patients. The aim of the present study was to investigate the metabolic profiles of ACM patients compared to healthy controls (CTRLs). The targeted Biocrates AbsoluteIDQ® p180 assay was used on plasma samples. Our analysis showed that ACM patients have a different metabolome compared to CTRLs, and that the pathways mainly affected include tryptophan metabolism, arginine and proline metabolism and beta oxidation of fatty acids. Altogether, our data indicated that the plasma metabolomes of arrhythmogenic cardiomyopathy patients show signs of endothelium damage and impaired nitric oxide (NO), fat, and energy metabolism." @default.
- W3136308065 created "2021-03-29" @default.
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- W3136308065 date "2021-03-25" @default.
- W3136308065 modified "2023-10-16" @default.
- W3136308065 title "Metabolic Signature of Arrhythmogenic Cardiomyopathy" @default.
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- W3136308065 doi "https://doi.org/10.3390/metabo11040195" @default.
- W3136308065 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8064316" @default.
- W3136308065 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33805952" @default.
- W3136308065 hasPublicationYear "2021" @default.