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Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Consolato M. Sergi
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, 2022 Barth syndrome (BTHS) is a rare X-linked genetic disease classically characterized by cardiomyopathy, skeletal myopathy, and neutropenia. It is caused by mutations in the TAFAZZIN gene, which codes for the protein tafazzin (Taz), and this results in alterations in the level and molecular composition of the mitochondrial phospholipid cardiolipin with ...
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Understanding the role of MLCL AT-1 and tafazzin in mitochondrial function
, 2015 Cardiolipin (CL) is a phospholipid found exclusively in mitochondria and is required for normal mitochondrial function. CL biosynthesis requires a crucial remodelling step that incorporates specific acyl chains onto its molecular structure. The enzyme primarily responsible for CL remodelling is Tafazzin (TAZ), a mitochondrial protein encoded by the TAZ
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A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes
Disease Models & MechanismsErika Yazawa +7 more
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Distinct Effects of Tafazzin Deletion in Differentiated and Undifferentiated Mitochondria [PDF]
Mitochondrion, 2009 Tafazzin is a conserved mitochondrial protein that is required to maintain normal content and composition of cardiolipin. We used electron tomography to investigate the effect of tafazzin deletion on mitochondrial structure and found that cellular differentiation plays a crucial role in the manifestation of abnormalities. This conclusion was reached by
Riekelt H Houtkooper +2 more
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Cardiolipin Remodeling and the Function of Tafazzin
Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2013Cardiolipin, the specific phospholipid of mitochondria, is involved in the biogenesis, the dynamics, and the supramolecular organization of mitochondrial membranes. Cardiolipin acquires a characteristic composition of fatty acids by post-synthetic remodeling, a process that is crucial for cardiolipin homeostasis and function.
Michael Schlame
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Tafazzin splice variants and mutations in Barth syndrome
Molecular Genetics and Metabolism, 2014Barth syndrome is caused by mutations in the TAZ (tafazzin) gene on human chromosome Xq28. The human tafazzin gene produces four major mRNA splice variants; two of which have been shown to be functional (TAZ lacking exon 5 and full-length) in complementation studies with yeast and Drosophila.
Susan M, Kirwin +3 more
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Cardiac mitochondrial structure and function in tafazzin-knockdown mice
Mitochondrion, 2018Mutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the current study, we examined subsarcolemmal and interfibrillar mitochondria from hearts of tafazzin-knockdown mice, focusing ...
Junhwan Kim +4 more
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A Reduction in Tafazzin Decreases Mitochondrial Function in C2C12 Myotubes
The FASEB Journal, 2022Mitochondria, which are often regarded as the “powerhouse of the cell”, are labile organelles that regulate cellular metabolism, determine cell fate, and act as important signaling hubs. A phospholipid that is exclusively found within mitochondria that serves numerous roles is cardiolipin (CL).
Brandon J. Richards +2 more
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Drosophila Mitochondrial Membrane‐bound Tafazzin Protein Is A Transacylase
The FASEB Journal, 2007Barth syndrome is an X‐linked mitochondria disorder with skeleton myopathy, cardiomyopathy and neutropenia, resulting from the tafazzin mutation. As demonstrated previously [Xu et al.: PNAS 103:11584, 2006], the mutation of full length Drosophila ...
Yang Xu +6 more
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