title: Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome.
abstract: Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card-iolipin (CL) species in mitochondria. Diagnosis of the disease is often compromised by lack of rapid and widely available diagnostic laboratory tests. The present study describes a new method for BTHS screening based on MALDI-TOF/MS analysis of leukocyte lipids. This generates a "CL fingerprint" and allows quick and simple assay of the relative levels of CL and monolysocardiolipin species in leukocyte total lipid profiles. To validate the method, we used vector algebra to analyze the difference in lipid composition between controls (24 healthy donors) and patients (8 boys affected by BTHS) in the high-mass phospholipid range. The method of lipid analysis described represents an important additional tool for the diagnosis of BTHS and potentially enables therapeutic monitoring of drug targets, which have been shown to ameliorate abnormal CL profiles in cells.
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sensory Organs, University of Bari "A. Moro", Bari, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Angelini
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sensory Organs, University of Bari "A. Moro", Bari, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Lobasso
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sensory Organs, University of Bari "A. Moro", Bari, Italy.
authors.forename: Ruggiero
authors.initials: R
authors.lastname: Gorgoglione
authors.affiliation: Department of Clinical Biochemistry, Bristol Royal Infirmary, University Hospitals Bristol National Health Service Foundation Trust, Bristol BS2 8HW, United Kingdom.
authors.forename: Ann
authors.initials: A
authors.lastname: Bowron
authors.affiliation: Clinical Lead, National Health Service Specialised Services Barth Syndrome Service, Bristol Royal Hospital for Children, Bristol BS2 8BJ, United Kingdom.
authors.forename: Colin G
authors.initials: CG
authors.lastname: Steward
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sensory Organs, University of Bari "A. Moro", Bari, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Corcelli
mesh_terms: D000328:Adult; D056889:Barth Syndrome / Q000097:blood* / Q000235:genetics; D002308:Cardiolipins / Q000096:biosynthesis / Q000235:genetics*; D009202:Cardiomyopathies / Q000097:blood* / Q000235:genetics / Q000473:pathology; D016172:DNA Fingerprinting; D064368:Healthy Volunteers; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008246:Lysophospholipids / Q000378:metabolism*; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000473:pathology; D009154:Mutation; D010743:Phospholipids / Q000097:blood; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D002308:Cardiolipins; D008246:Lysophospholipids; D010743:Phospholipids
keywords: cardiomyopathy; lysophospholipids; mass spectrometry; matrix-assisted laser desorption/ionization; mitochondria; phospholipids; phospholipids/metabolism; tafazzin; time-of-flight