Israeli researchers have deciphered the mechanism of a rare neurological disease

Scientists from Tel Aviv University have created a unique model that helped reveal the mechanism of development of a severe and rare neurological disease.

The disease, the mechanism of which Israeli researchers were able to decipher, is characterized by epilepsy, developmental delay and mental retardation. Scientists note that understanding the mechanism is a key step in creating therapies that can help treat this and other diseases with similar processes.

The disease under study is caused by a mutation in the TIMM50 protein, which plays a key role in transporting other proteins to mitochondria, the organelles responsible for energy production in the cell. To study how the mutation affects brain cells, scientists developed an innovative model using mouse neurons that mimics a mutation in the TIMM50 protein.

In the study, the team saw that disrupting the protein’s function led to two key consequences: a decrease in energy production in neurons, which may explain developmental delays, and an increase in the frequency of action potentials, the electrical signals that transmit information between neurons. The cause of the changes was probably significant damage to two proteins that act as potassium channels. Potassium imbalance can cause severe negative consequences, including arrhythmias, cardiac arrest and muscle weakness, including paralysis.

Scientists say their research reveals the mechanism behind the development of a severe and rare neurological disease caused by a mutation in the protein. Understanding the mechanism of the disease is an important step towards creating effective treatments, as it allows the development of drugs aimed at eliminating specific identified disorders.