The TIMM8A gene is the cause of Mohr-Tranebjaerg syndrome (MTS). It is located on the X chromosome and contains the blueprint for a protein that is crucial for the energy supply of our cells.

This protein works in the mitochondria, the tiny "powerhouses" of body cells. There, it helps transport other important proteins to their correct locations. Only when this transport functions properly can the mitochondria provide sufficient energy for the cells.

If the TIMM8A gene is altered or completely absent, this transport no longer functions properly. Nerve cells, in particular, require a great deal of energy and are therefore especially sensitive to this disruption. For this reason, hearing, vision, and the nervous system are primarily affected in Mohr-Tranebjaerg syndrome.

Because the TIMM8A gene is located on the X chromosome, it predominantly affects boys and men. Girls can carry the gene mutation, but often develop no symptoms or only very mild ones.

Understanding the function of the TIMM8A gene is a key component of current research. Scientists worldwide are working to better understand the consequences of alterations to this gene for nerve cells and how this could lead to new treatment options in the future.

💡 In short:  TIMM8A = blueprint for an important protein in the mitochondria. If this blueprint is missing or altered, nerve cells can no longer properly perform their functions over time. This leads to the typical symptoms of Mohr-Tranebjaerg syndrome.