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.

Barth 综合征是一种 X 连锁隐性遗传病，由TAZ的致病性变异引起，导致心磷脂减少，同时单溶心磷脂升高。很少有研究使用可以准确注释和量化不同脂质的高分辨率非靶向脂质组学来表征 Barth 综合征中单个溶血心磷脂、二溶心磷脂和心磷脂的变化。我们证实了单溶心磷脂、二溶心磷脂和心磷脂的结构多样性，并确定了在 BTHS 中显示出先前未报道的改变的个体物种。为这些脂质生物标志物开发基于质谱的靶向分析应该为 Barth 综合征的临床诊断提供重要工具。