Article

Loss of TAFAZZIN leads to perturbation of amino acid metabolism and reduction of collagen synthesis

2026-07-20

Abstract excerpt

Barth syndrome is a life-threatening genetic disorder caused by mutations in the TAFAZZIN (TAZ) gene, which disrupt remodeling of cardiolipin in mitochondria. The disease is associated with cardiac and skeletal myopathy, neutropenia, fatigue, and metabolic dysfunction. Previous studies showed that loss of TAZ decreases pyruvate dehydrogenase activity, reduces glucose flux into the TCA cycle, and impairs fatty acid...

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Literature Corpus work: 59919db4-dd8d-5f43-9e93-904dbcbc455f
DOI: 10.64898/2026.07.19.739395

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