Barth syndrome is caused by mutations in the TAFAZZIN gene.
Understanding Barth Syndrome and the TAFAZZIN Gene
The TAFAZZIN gene plays a crucial role in the proper functioning of cells. Let's break it down:
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The TAFAZZIN Gene: This gene provides the instructions for creating a protein called tafazzin.
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Tafazzin Protein's Role: The tafazzin protein is located in the mitochondria, which are the powerhouses of our cells. Mitochondria generate energy for the cell to function properly.
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Mutations and Their Consequences: When the TAFAZZIN gene has mutations, it disrupts the production of functional tafazzin protein. This leads to problems with mitochondrial function, resulting in the symptoms of Barth syndrome.
Key Information in a Table
| Feature | Description |
|---|---|
| Cause | Mutations in the TAFAZZIN gene |
| Gene Function | Provides instructions for making the tafazzin protein. |
| Protein Location | Mitochondria (energy-producing centers of cells) |
| Effect of Mutation | Disrupts mitochondrial function due to faulty tafazzin protein, leading to Barth syndrome. |
