巴氏症(Barth Syndrome)為X染色體上Xq28位置的TAZ基因突變使tafazzin酵素失去功能，導致粒線體中磷脂調控失衡而導致粒線體損傷。越來越多證據顯示不只有心磷脂的改變會對粒線體造成影響，如巴氏症患者PE與PC比值會失衡。本實驗使用Hap1 ΔTAZ細胞作為巴氏症模型，透過逆向層析串聯式質譜儀磷脂質分析平台針對Hap1 WT、Hap1 ΔTAZ與添加PG及轉染TAZ基因，分析轉染TAZ與補充PG造成的磷脂質改變。結果顯示當轉染TAZ基因剔除後除CL與MLCL失衡以外，PC、PE與PS含量與組成皆有改變。Hap1 ΔTAZ轉染TAZ後使CL與MLCL比值恢復且組成亦有改變。Hap1 ΔTAZ補充過量的PG後，PG會被分解並被其他磷脂質給吸收，使細胞內特定醯基鏈組成增加。 Barth Syndrom is a genetic disease caused by TAZ gene mutation at X chromosome Xq28 location. This mutation of tafazzin would lead to the loss of the capacity to regulate mitochondrial phospholipid remodeling and metabolism, causing mitochondria disorder. More and more evidence showed that not only cardiolipin change will cause mitochondria dysfunction, also other phospholipids like PE and PC. This research used a Hap1 ΔTAZ cell line as a barth syndrome disease model, treatment Hap1 ΔTAZ cell line was transfected by TAZ gene and supplemented PG, and then analyzed the phospholipid compositions by mass spectrometry. The result showed TAZ gene knock out cause PC, PE and PS changes. TAZ gene transfection recovered cardiolipin and monolysocardiolipin ratio and acyl chain compositions. After supplementation of PG, excess PG will be absorbed by other phospholipids in the cell and cause specific acyl chain species increase.
