Scientists have identified a factor in the mass death of brain cells

Scientists from the Helmholtz Research Center in Munich have revealed the mechanism by which a rare hereditary disease - Sedaghat-type spondylometaphyseal dysplasia (SSMD) - leads to massive death of brain cells. A special type of cell death - ferroptosis - plays a key role in this process, as it turned out. The results of the study are published in the scientific journal Cell.

As reported by BAKU.WS with reference to Cell, at the core of the pathological process is a breakdown of the GPX4 gene, which triggers a chain reaction of cell self-destruction associated with iron accumulation and oxidative damage to membranes. In experiments on mice, the mutation led to progressive inflammation and death of neurons, and a similar mechanism was reproduced in human neurons and brain organoids grown from skin cells of patients with SSMD.

Scientists explain that normally GPX4 performs a protective function, neutralizing lipid peroxides and preventing the destruction of cell membranes. When this enzyme malfunctions, cells become extremely vulnerable to oxidative stress and die. The study leader Markus Conrad compared the action of GPX4 to a "surfer" that slides along the membrane and neutralizes dangerous molecules.

Despite the rarity of SSMD itself, researchers consider the obtained data significant for studying more common neurodegenerative diseases. Protein analysis revealed similarities between ferroptosis processes in this mutation and changes occurring in neurons in Alzheimer's, Parkinson's, and Huntington's diseases. This indicates a possible common mechanism of cell death and opens prospects for finding new therapeutic targets.