Identification of biomarkers of dilated cardiomyopathy using high resolution mass spectrometry | Poster Board #204

Propionic acidemia (PA) is a genetic metabolic disease with elevated occurrence in the Amish community. Individuals with PA can rapidly develop dilated cardiomyopathy (DCM) with adverse health effects. Discovery of biomarkers to predict onset of DCM would allow for early-stage interventions to reduce negative health outcomes. Targeted and nontargeted metabolomics using high resolution mass spectrometry (HR-MS) was performed on serum samples from patients at the New Leaf Clinic which serves the Amish population in Ohio. Targeted analysis of amino acids showed substantial elevation in serum valine and arginine levels of patients with PA and DCM. Although DCM has previously been linked to changes in serum carnitine levels, no significant difference was observed in carnitine profiles in cohorts of patients with and without DCM. Non-targeted analysis was used as an unbiased approach to discover biomarkers for DCM. To date, over 300 features with a significant difference in DCM patients have been identified. The identities of features as confirmed by tandem mass spectrometry, the relationship to metabolism, the stability of carnitines, and the method of data analysis will be presented.