Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]
Genes (Basel)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 variant generally do not experience the condition.
Sergi CM.
europepmc +3 more sources
Effects of N‐oleoylethanolamide on Lymphoblasts Deficient in Tafazzin
The FASEB Journal, 2021 Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutations in the TAZ gene that encodes for the cardiolipin remodelling enzyme, Tafazzin. This syndrome is characterized by cardiac and skeletal myopathies, as well as immunological deficits that cause significant morbidity ...
John Chan +6 more
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Evaluation of Tafazzin as Candidate for Dilated Cardiomyopathy in Irish Wolfhounds [PDF]
Journal of Heredity, 2007 Dilated cardiomyopathy (DCM) is a common disease in humans and dogs. Large-breed dogs and especially Irish wolfhounds belong to the frequently affected breeds. Male Irish wolfhounds show a significantly higher prevalence of DCM than females. Therefore, we evaluated X chromosome markers for linkage with DCM as well as a human candidate gene on the X ...
Ute, Philipp +3 more
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Regulation of hepatic cardiolipin metabolism by TNFα: Implication in cancer cachexia [PDF]
, 2015 International audienceCardiolipin (CL) content accumulation leads to an increase in energy wasting in liver mitochondria in a rat model of cancer cachexia in which tumor necrosis factor alpha (TNFα) is highly expressed.
Chevalier, Stephan +12 more
core +3 more sources
Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]
Int J Mol SciBarth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial, cardiac, and skeletal muscle function.
Raghav R +5 more
europepmc +3 more sources
Developmental Sex Differences in the Metabolism of Cardiolipin in Mouse Cerebral Cortex Mitochondria [PDF]
, 2017 Cardiolipin (CL) is a mitochondrial-specific phospholipid. CL content and acyl chain composition are crucial for energy production. Given that estradiol induces CL synthesis in neurons, we aimed to assess CL metabolism in the cerebral cortex (CC) of male
Acaz Fonseca, Estefanía +4 more
core +4 more sources
Journal of Lipid Research, 2013 Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish +10 more
doaj +1 more source
Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells [PDF]
Microbial Cell, 2018 Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ). Loss-of-function mutations in the TAZ gene are responsible for the Barth syndrome (BTHS), a rare X-linked cardiomyopathy, presumably because of a ...
de Tilques, Maxence de Taffin +10 more
openaire +6 more sources
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]
, 2015 Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Agarwal, Ashutosh +27 more
core +1 more source
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome
PLoS ONE, 2023 Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
George G. Schweitzer +7 more
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