A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling.

Yang Xu, Colin K L Phoon, Mindong Ren, Michael Schlame

Journal of inherited metabolic disease 2022 Jan

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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. © 2021 SSIEM.

Citation

Yang Xu, Colin K L Phoon, Mindong Ren, Michael Schlame. A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling. Journal of inherited metabolic disease. 2022 Jan;45(1):51-59