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

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 spectrometrybased targeted assays for these lipid biomarkers should provide an important tool for clinical diagnosis of Barth syndrome.

Automated summary

The study identified structural diversity in monolysocardiolipins, dilysocardiolipins, and cardiolipin in Barth syndrome, as well as individual species with previously unreported alterations in BTHS. Developing mass spectrometry-based targeted assays for these lipid biomarkers could be crucial for clinical diagnosis of Barth syndrome.