High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome

Seul Kee Byeon, Madan Gopal Ramarajan, Anil K. Madugundu, Devin Oglesbee, Hilary J. Vernon, Akhilesh Pandey

Research output: Contribution to journalArticlepeer-review


Barth syndrome is an X-linked recessive disorder caused by pathogenic variants in TAZ, which leads to a reduction in cardiolipin with a concomitant elevation of monolysocardiolipins. There is a paucity of studies characterizing changes in individual species of monolysocardiolipins, dilysocardiolipins and cardiolipin in Barth syndrome using high resolution untargeted lipidomics that can accurately annotate and quantify diverse lipids. We confirmed the structural diversity monolysocardiolipins, dilysocardiolipins and cardiolipin and identified individual species that showed previously unreported alterations in BTHS. Development of mass spectrometry-based targeted assays for these lipid biomarkers should provide an important tool for clinical diagnosis of Barth syndrome.

Original languageEnglish (US)
Pages (from-to)27-32
Number of pages6
StatePublished - Sep 2021


  • Biomarker
  • Dilysocardiolipin
  • Lipidomics
  • Mass spectrometry
  • Monolysocardioipin
  • Tafazzin

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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