Raghav Rahul, Awata Junya, Martin Gregory L, Strathdee Douglas, Blanton Robert M, Chin Michael T
Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA 02111, USA.
Cancer Research UK Beatson Institute, Glasgow G61 1BD, UK.
Int J Mol Sci. 2024 Dec 18;25(24):13560. doi: 10.3390/ijms252413560.
Barth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial, cardiac, and skeletal muscle function. Current gene therapies in preclinical development require high levels of transduction. We tested whether TAFAZZIN gene therapy could be enhanced with the addition of a cell-penetrating peptide, penetratin (Antp). We found that TAFAZZIN-Antp was more effective than TAFAZZIN at preventing the development of pathological cardiac hypertrophy and heart failure. These findings indicate that a cell-penetrating peptide enhances gene therapy for BTHS.
巴斯综合征(BTHS)是一种早发性致死性X连锁疾病,由tafazzin(TAFAZZIN)基因突变引起,TAFAZZIN是一种线粒体酰基转移酶,可将单赖氨酸心磷脂(MLCL)重塑为成熟的心磷脂(CL),对正常线粒体、心脏和骨骼肌功能至关重要。目前临床前开发中的基因疗法需要高水平的转导。我们测试了添加细胞穿透肽穿膜肽(Antp)是否可以增强TAFAZZIN基因治疗效果。我们发现,TAFAZZIN-Antp在预防病理性心脏肥大和心力衰竭的发展方面比TAFAZZIN更有效。这些发现表明,细胞穿透肽可增强BTHS的基因治疗效果。