Plasma phospholipid dysregulation in patients with cystathionine-β synthase deficiency

• Published in: Nutrition, metabolism, and cardiovascular diseases Vol. 30; no. 12; pp. 2286 - 2295
• Main Authors: Di Minno, Alessandro, Anesi, Andrea, Chiesa, Mattia, Cirillo, Ferdinando, Colombo, Gualtiero I., Orsini, Roberta C., Capasso, Filomena, Morisco, Filomena, Fiorelli, Susanna, Eligini, Sonia, Cavalca, Viviana, Tremoli, Elena, Porro, Benedetta, Di Minno, Matteo N.D.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 27.11.2020
• Subjects: Adult; Aged; Biomarkers - blood; blood; blood lipids; Case-Control Studies; Chromatography, High Pressure Liquid; correlation; cystathionine; docosahexaenoic acid; Dyslipidemias - blood; Dyslipidemias - diagnosis; Dyslipidemias - etiology; Female; homocysteine; Homocystinuria; Homocystinuria - blood; Homocystinuria - complications; Homocystinuria - diagnosis; Humans; lipid peroxidation; Lipidomics; liquid chromatography; liquids; long chain polyunsaturated fatty acids; lysophosphatidylcholine; Male; metabolism; Middle Aged; nutrition; patients; Phosphatidylethanolamine-N-methyltransferase; phosphatidylethanolamines; Phospholipids - blood; Plasma untargeted lipidomics; S-adenosylhomocysteine; S-adenosylmethionine; Spectrometry, Mass, Electrospray Ionization; tandem mass spectrometry; thrombosis; LPE; PS; UHPLC-ESI-Q-TOF-MS; CBSD patients; S-adenosylhomocysteine; S-adenosylmethionine; Homocystinuria; CBS; m/z; ESI; SM; AA; QCs; Phosphatidylethanolamine-N-methyltransferase; CE; Plasma untargeted lipidomics; PLS-DA; DAG; PCA; TIC; CER; PA; LC-MS; netCDF; PC; PE; EPA; PG; PEMT; PI; SAH; TAG; DHA; LPC; SAM; Hcy

Patients with cystathionine β-synthase deficiency (CBSD) exhibit high circulating levels of homocysteine and enhanced lipid peroxidation. We have characterized the plasma lipidome in CBSD patients and related lipid abnormalities with reactions underlying enhanced homocysteine levels. Using an ultra-...