Research published in “Science” shows how blocking the USP30 enzyme can reduce the transmission of hereditary mutations in embryos
A study in the latest issue of the magazine with the participation of the Brazilian researcher identified a mechanism that allows the transmission of mutations in mitochondrial DNA, responsible for serious and incurable hereditary diseases.
According to those involved, USP30 prevents the elimination of defective mitochondria shortly after fertilization, increasing the chance of transmission of mutations.
By using the CMPD39 inhibitor (Compound 39), it is possible to reactivate the natural elimination of these mitochondria, paving the way for new pharmacological therapies.
The study suggests that future treatments could be applied to early embryos, including after in vitro, to reduce the risk of being born with mitochondrial diseases.
Among these diseases are Lhon (Leber hereditary optic neuropathy), Leigh syndrome and Melas, which affect vital organs such as the brain and heart.
According to Chiaratti, the discovery represents a less invasive alternative to the technique of replacing mitochondria with donors, approved so far only in the .
With information from . Text written by Luciana Constantino.
