Scientists discovered the cause of mass brain cell death

Scientists from the Helmholtz Research Center in Munich made a breakthrough, uncovering the mystery of a rare hereditary disease. They established that Sedaghat-type spondylometaphyseal dysplasia (SSMD) causes massive brain cell death through a special mechanism – ferroptosis. This revolutionary discovery has been published in the authoritative scientific journal Cell.

As reported by TUT.AZ with reference to Cell, the root of the problem lies in a defect in the GPX4 gene. This defect triggers a destructive chain reaction of cell self-destruction, associated with pathological iron accumulation and devastating oxidation of cell membranes. Experiments on mice showed that the mutation causes rapid development of inflammation and neuronal death. A similar scenario was reproduced in human neurons and brain organoids grown from skin cells of patients suffering from SSMD.

The researchers explained that in a normal state, GPX4 acts as a cell protector, effectively neutralizing lipid peroxides and preventing the destruction of cell membranes. When the work of this vital enzyme is disrupted, cells become defenseless against oxidative stress and die. The lead author of the study, Marcus Conrad, figuratively compared the action of GPX4 to a "surfer" who masterfully glides along the membrane, neutralizing dangerous molecules in its path.

Despite the extreme rarity of SSMD, the results obtained may have enormous significance for understanding widespread neurodegenerative diseases. Detailed protein analysis revealed striking similarities between the processes of ferroptosis in this mutation and changes in neurons in Alzheimer's, Parkinson's, and Huntington's diseases. This discovery points to the possible existence of a universal mechanism of cell death and opens up exciting prospects for developing fundamentally new methods of treating these destructive diseases.