What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?
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چکیده
منابع مشابه
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome.
Mutations in the mitochondrial cardiolipin (CL) transacylase, tafazzin (Taz1p), result in the X-linked cardioskeletal myopathy, Barth syndrome (BTHS). The mitochondria of BTHS patients exhibit variable respiratory defects and abnormal cristae ultrastructure. The biochemical basis for these observations is unknown. In the absence of its target phospholipid, CL, a very large Taz1p complex is miss...
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The authors recently noticed that the published amino acid sequence of the protein C epitope tag component of the CNAP tag was incorrect. The published amino acid sequence of the protein C (PC) epitope tag was EDQVDPIDGK and should have been EDQVDPRLIDGK. Thus, the correct amino acid sequence of the CNAP tag employed is: MEDQVDPRLIDGK-GGAGG-HHHHHHHHHH (protein C [PC] epitope tag is underlined, ...
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The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia, and 3-methyl-glutaconic aciduria. The causative gene is the mitochondrial acyl-transferase, tafazzin, that is essential for remodeling acyl chains of cardiolipin....
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Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1. Its product, Taz1p, participates in the metabolism of cardiolipin, the signature phospholipid of mitochondria. In this paper, a yeast BTHS mutant tafazzin panel is established, and 18 of the 21 tested BTHS missense mutations cannot functi...
متن کاملMitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with cardiomyopathy and neutropenia. The TAZ gene encodes Tafazzin, a putative phospholipid acyltranferase that is involved in the remodeling of cardiolipin, a phospholipid unique to the inner mitochondrial membrane. It has been shown that the disruption of the Tafazzin gene in yea...
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ژورنال
عنوان ژورنال: Blood
سال: 2019
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2019-123680