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The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria.

Matthew J. Toth

Science Director

Barth Syndrome Foundation, Inc.

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15y ago
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1mo ago

People with Barth Syndrome have mutations in the TAZ gene, which leads to impaired production of cardiolipin, a key biomolecule found in the inner mitochondrial membrane. This loss of cardiolipin affects the proper functioning of mitochondria, leading to the symptoms of Barth Syndrome.

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Q: The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
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The primary function of the mitochondria is to produce energy in the form of ATP through the process of cellular respiration. Mitochondria are often referred to as the powerhouse of the cell due to their role in generating energy for cellular activities.


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