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A TAU study deciphers the mechanism of a rare and fatal neurological disease

December 16th 2024 ,
Optical microscope image of a mitochondrion in a cell. Photo: Molecular Probes Inc., CC BY-SA 3.0, via Wikimedia Commons.Optical microscope image of a mitochondrion in a cell. Photo: Molecular Probes Inc., CC BY-SA 3.0, via Wikimedia Commons.

TIMM50 gene deficiency causes severe mitochondrial dysfunction that affects key aspects of mitochondrial physiology, often resulting in epilepsy, developmental delays and intellectual disabilities.

A team of scientists at Tel Aviv University has identified the mechanism behind this rare disease, which could pave the way to new treatments for a variety of neurological disorders.

To study this dysfunction, scientists developed an innovative research model using mouse neurons: by reducing TIMM50 levels in these neurons, they observed a decrease in energy production, which is linked to developmental delays.

They also found that the defective TIMM50 protein causes neurons to fire electrical signals more frequently than normal, which is linked to epilepsy. This phenomenon was attributed to an imbalance in potassium levels, which could lead to life-threatening conditions such as arrhythmias, cardiac arrest, muscle weakness and even paralysis.

Abdussalam Azem, research leader and dean of the Wise School of Life Sciences, explained that “deciphering the mechanism of this disease is an important step towards developing effective treatments.”

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