Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, Ann Bowron, Colin G Steward, Angela Corcelli

Research output: Contribution to journalArticle (Academic Journal)peer-review

24 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1787-94
Number of pages8
JournalJournal of Lipid Research
Issue number9
Publication statusPublished - Sept 2015


  • Adult
  • Barth Syndrome
  • Cardiolipins
  • Cardiomyopathies
  • DNA Fingerprinting
  • Healthy Volunteers
  • Humans
  • Leukocytes
  • Lysophospholipids
  • Male
  • Mitochondria
  • Mutation
  • Phospholipids
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Journal Article
  • Research Support, Non-U.S. Gov't


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