Research and management of cystic fibrosis are progressing and this is good news. At the end of December, the Ministry of Health announced that the Kaftrio treatment® Who allows patients to live almost normally, was to be extended to children under 12. Today, a new avenue of hope is unveiled by Inserm researchers, for a certain type of cystic fibrosis. Their results are published in the journal Molecular Therapy.
let’s remember that cystic fibrosis is a genetic disease which is linked to a gene that produces a protein, the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The role of the latter is to regulate the transport of chlorine through our glandular mucous membranes, or our secretions in the bronchi, in the pancreas, but also the bile. Because of this disease (which affects one in 4,000 babies), these secretions lack water, are not fluid enough, to the point that the pathology becomes lethal.
This disease can be caused by 2000 mutations in the gene that makes the CFTR protein, and in 10% of cases, it is a so-called “non-sense” mutation. Concretely, there is an interruption in the proper functioning of the gene, supposed to encode amino acids involved in the synthesis of this essential protein for living. The latter only does its job halfway and does not make it possible to manufacture the protein correctly. In fact, the mechanism is interrupted.
A molecule that restores gene function
But scientists have discovered a molecule that could correct this “nonsense” defect. Her name is di-amino-purine (DAP) and is one of the active principles of a known and not very tasty mushroom, the Lepista flaccida.
“The results obtained by the team suggest that DAP makes it possible to correct the nonsense mutation in the different models studied, by restoring the production of proteins and effectively restoring the function of the mutated gene”. notes the press release.
By testing it on a cellular scale, they realized that its action allowed the protein to function, despite the genetic mutation. DAP has also been shown in mice to improve symptoms of cystic fibrosis in the lungs and intestines.
They specify: “The research team also shows that DAP can be given orally and that it is distributed effectively throughout the body, for about two hours. These characteristics are also a positive sign for consider DAP as a serious therapeutic avenuebecause this means that we could reach all the tissues of an organism while limiting the duration of exposure to the molecule and therefore reducing possible side effects.“
Sources:
- Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis, Molecular Therapy, January 13, 2023.
- Cystic fibrosis: a new therapeutic perspective thanks to research on an edible mushroom, Inserm, January 26, 2023.
