A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling. Issue 1 (17th October 2021)

• Record Type: Journal Article
• Authors: Xu, Yang; Phoon, Colin K. L.; Ren, Mindong; Schlame, Michael
• Is Part Of: Journal of inherited metabolic disease. Volume 45:Issue 1(2022)
• Page Start: 51
• Page End: 59
• Publication Date: 2021-10-17
• Subjects: lipids -- mitochondria -- oxidative phosphorylation; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12445
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: Barth syndrome is a multisystem disorder caused by an abnormal metabolism of the mitochondrial lipid cardiolipin. In this review, we discuss physical properties, biosynthesis, membrane assembly, and function of cardiolipin. We hypothesize that cardiolipin reduces packing stress in the inner mitochondrial membrane, which arises as a result of protein crowding. According to this hypothesis, patients with Barth syndrome are unable to meet peak energy demands because they fail to concentrate the proteins of oxidative phosphorylation to a high surface density in the inner mitochondrial membrane.