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• W1896002657 abstract "Abstract Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterised by cardiomyopathy, skeletal myopathy, neutropaenia, growth delays and 3-methylglutaconic aciduria. The causative mutations for BTHS are in the TAZ gene, which encode a putative acyltransferase named tafazzin, involved in the remodelling of cardiolipin (CL) in the inner mitochondrial membranes. To date, more than 120 different disease-causing TAZ gene mutations have been reported. Mutations in the TAZ gene cause accumulation of monolysoCL and reduced levels of tetralinoeoyl CL, which result in mitochondrial structural and functional abnormalities. The functional role of CL has been investigated using model systems for BTHS such as yeast, zebrafish and flies. Recently, an inducible tafazzin knockdown mouse demonstrated abnormal fetal heart development with altered mitochondrial ultrastructure. Current understanding of the molecular genetics of BTHS including CL metabolism, mitochondrial disorders and clinical presentations are reviewed. Key Concepts: Barth syndrome is an X-linked disorder of lipid metabolism characterised by cardiomyopathy, skeletal myopathy, neutropaenia, growth delays and 3-methylglutaconic aciduria. Barth syndrome is recognised as cardiolipin remodelling disorder due to the TAZ mutation. TAZ gene encodes tafazzin protein, which has a central role in the reacylation of MLCL to L4-CL in the mitochondria. Cardiolipin plays a crucial role for both mitochondrial membrane structure and function. The role of tafazzin and cardiolipin in the mitochondria remains to be elucidated. Several model systems for Barth syndrome have been developed to elucidate the disease pathophysiology. Mouse model of Barth syndrome provide new insight into the role of tafazzin." @default.
• W1896002657 created "2016-06-24" @default.
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• W1896002657 date "2013-09-19" @default.
• W1896002657 modified "2023-09-24" @default.
• W1896002657 title "Molecular Genetics of Barth Syndrome" @default.
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• W1896002657 doi "https://doi.org/10.1002/9780470015902.a0025024" @default.
• W1896002657 hasPublicationYear "2013" @default.
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