Barth syndrome

Causes

What gene change causes Barth syndrome?

Barth syndrome is caused by changes in the tafazzin (TAZ) gene. More people are using the full name tafazzin when referring to this gene, due to another gene with the same abbreviation (not related to Barth syndrome). Tafazzin gene changes are also associated with a heart condition called isolated left ventricular noncompaction (LVNC), but this occurs rarely. The tafazzin gene contains instructions for the tafazzin protein, which is located in mitochondria, the energy-producing parts of cells in the body. Tafazzin protein is involved in altering cardiolipin, which plays a critical role in the mitochondrial inner membrane. This problem also causes certain compounds to build up in the body, such as 3-methylglutaconic acid (3-MGC) and monolysocardiolipins (MLCL).

References
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Why does Barth syndrome cause heart problems?

Why does Barth syndrome cause heart problems?

Barth syndrome is caused by changes in the tafazzin (TAZ) gene, which is also associated with a heart condition called isolated left ventricular noncompaction (LVNC). The tafazzin gene contains instructions for the tafazzin protein, which is located in mitochondria, the energy-producing cells in the body. Many of these cells are found in the heart. Tafazzin protein is involved in altering cardiolipin, which plays a critical role in the mitochondrial inner membrane. Cardiolipin is a lipid (a type of fat) that can only be found in the mitochondria.

References

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