Several rare genetic diseases cause a aging early and accelerated. This is the case with Cockayne syndrome, which accounts for an average of 2.5 births in a million and is associated with a lifespan of less than seven years for the most severe form. Children affected by this genetic disease are aging much faster than expected: they lose weight, their hair falls out, their hearing and eyesight decline. The disease also causes neurodegeneration and facial deformities.
Cockayne syndrome (SC) is caused by mutations in two genes, playing a role in repairing DNA damage from UV (ultra-violet) rays. Clearly, when DNA is damaged by the sun’s rays, it cannot be completely repaired because of the genetic mutations of those affected.
However, this repair defect is not the only major factor in the aging of cells in patients with Cockayne syndrome. In a study published in the specialized journal PNAS Plus, French researchers from the Institut Pasteur and the CNRS found that cell defects in patients with CS were due to excessive production of an enzyme (HTRA3) induced by free radicals (oxidative stress).
Because it is in excess, this enzyme breaks down a key element contained in the mitochondria, the “energy factories” of our cells. Result: this “attack on the heart of the mitochondria” ultimately leads to cell degeneration.
Two therapeutic approaches therefore appeared to researchers. They have developed a antioxidant to capture free radicals, which prevented the excessive production of the enzyme. They also used an inhibitor of this HTRA3 enzyme. In both cases, they succeeded in restoring normal mitochondrial function in the cells of SC patients.
These two new therapeutic approaches could therefore be tested in the near future in patients, which is a great hope since no treatment is currently available. This major breakthrough could also lead to screening precocious of Cockayne syndrome.
Finally, the researchers point out that these mechanisms could also occur at a slower rate in the cells of healthy people. What opens up new research perspectives to prevent the appearance of pathologies linked to natural aging.
Read also :
The anti-aging pill: a not-so-distant promise
Can we slow down the aging process with our diet?
Alzheimer’s: 80% of the population thinks that the disease is a normal consequence of aging
