Zhu Siting, Pang Jing, Nguyen Anh, Huynh Helen, Lee Sharon, Gu Yusu, Vaz Frederic M, Fang Xi
Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
J Mol Cell Cardiol Plus. 2024 Jun;8. doi: 10.1016/j.jmccpl.2024.100076. Epub 2024 Apr 24.
Barth syndrome (BTHS) is a mitochondrial lipid disorder caused by mutations in (), required for cardiolipin (CL) remodeling. Cardiomyopathy is a major clinical feature, with no curative therapy. Linoleic acid (LA) supplementation is proposed to ameliorate BTHS cardiomyopathy by enhancing linoleoyl group incorporation into CL. While the beneficial effect of dietary LA supplementation in delaying the development of BTHS cardiomyopathy has been recently tested, its potential to reverse established BTHS cardiomyopathy remains unclear. Our study revealed that LA supplementation cannot rescue established BTHS cardiomyopathy in mice, highlighting the importance of early initiation of LA supplementation for maximum benefits.
巴斯综合征（BTHS）是一种线粒体脂质紊乱疾病，由参与心磷脂（CL）重塑所需的（）基因突变引起。心肌病是其主要临床特征，目前尚无治愈方法。有人提出补充亚油酸（LA）可通过增强亚油酰基掺入CL来改善BTHS心肌病。虽然最近已经测试了饮食中补充LA在延缓BTHS心肌病发展方面的有益效果，但其逆转已确诊的BTHS心肌病的潜力仍不清楚。我们的研究表明，补充LA无法挽救已确诊的小鼠BTHS心肌病，这突出了尽早开始补充LA以获得最大益处的重要性。
