Abstract
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. CL is essential for proper mitochondrial structure and function, ensuring proper functioning of energy production and apoptosis. TAZ mutations are associated with the X-linked metabolic disorder, Barth syndrome (BTHS). BTHS is a lipid metabolic disorder that affects mitochondria that is often fatal in infancy and early childhood, due to heart failure and life threatening opportunistic infections. Using Sanger sequencing and whole exome sequencing, we identified two patients with TAZ mutations, one with a novel hemizygous mutation c.36_57del (p.V12fs) without cardiomyopathy and another
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. CL is essential for proper mitochondrial structure and function, ensuring proper functioning of energy production and apoptosis. TAZ mutations are associated with the X-linked metabolic disorder, Barth syndrome (BTHS). BTHS is a lipid metabolic disorder that affects mitochondria that is often fatal in infancy and early childhood, due to heart failure and life threatening opportunistic infections. Using Sanger sequencing and whole exome sequencing, we identified two patients with TAZ mutations, one with a novel hemizygous mutation c.36_57del (p.V12fs) without cardiomyopathy and another