Ceramides are a subclass of sphingolipids typically composed of sphingosine and a fatty acid. Ceramides occur in relatively high levels within the cell membrane, as they are component lipids which constitute sphingomyelin a key component of the lipid bilayer. Ceramides take part in cell signaling involved in physiological and pathological processes. More specifically, ceramides have been implicated in various physiological functions: apoptosis, cell growth, cell arrest, cell differentiation, cell migration and adhesion. A key role of ceramides and metabolites has been reported in various disorders such as cancer, diabetes, microbial pathogenesis, obesity, inflammation, neurodegenerative disorders. Recently our group is focusing on new biomarkers in atherosclerosis including phosphatidylethanolamine-ceramides, which correlates highly with cholesterol and cardiovascular diseases (CVD).

Therefore, in order to unravel the pathological mechanisms of metabolic disorders, caused by dysregulation of lipid metabolism, a diversified approach is required, integrating basic cellular research with clinical research, using the analytical power of mass spectrometry-based techniques.

Acyl-carnitine profiling is a common diagnostic test used for the diagnosis of inherited error of metabolism (mainly disorders of fatty acid oxidation that result to organic acidemias). Concentrations of carnitines are altered in primary disorders of the carnitine cycle and in disturbances of carnitine metabolism due to various biochemical disorders.