Inserm researchers have discovered that a molecule from an edible mushroom relieves certain patients with cystic fibrosis.
Par Johanna Amselem
© Lionel Le Saux / MAXPPP / PHOTOPQR/LE TELEGRAMME/MAXPPP
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Cvery year, approximately 200 children are born with cystic fibrosis in France. It is one of the most common potentially serious genetic diseases in the country. It mainly affects the lungs and affects digestive functions, as detailed Inserm : « At the pulmonary level, the thickening of the mucus clogs the bronchi and first leads to a chronic cough, as well as discomfort and a reduction in respiratory function. »
Cystic fibrosis results from an abnormality in the gene coding for the CFTR protein (cystic fibrosis transmembrane conductance regulator) carried by chromosome 7. Currently, there are drugs that can correct the dysfunction and improve the symptoms.
But, for 10% of patients, this treatment is not effective. Since the beginning of the 2010s, advances should make it possible to further improve the prognosis of the disease. Today, the average life expectancy of a patient is between 40 and 50 years. Within Inserm, a research team led by Fabrice Lejeune, researcher in the Heterogeneity, plasticity and resistance of cancers to therapies laboratory (Inserm/ CNRS/ University of Lille/Institut Pasteur de Lille/CHU Lille) discovered that the molecule derived from an edible mushroom might be of therapeutic interest for patients with cystic fibrosis.
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A solution for other genetic diseases
As part of this study, the results of which were published in the journal Molecular Therapy, the scientists tested the effects of 2,6-diaminopurine (DAP), one of the active principles of this mushroom, in four experimental models of cystic fibrosis in order to be as close as possible to what actually happens in the patient organism. “The results obtained by the team suggest that DAP makes it possible to correct the nonsense mutation in the various models studied, by restoring the production of proteins and effectively restoring the function of the mutated gene”, summarizes the Inserm press release.
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Concretely, in animals, scientists have observed an improvement in symptoms and a reduction in premature mortality. Good point for this molecule; it can be taken in oral form and disperses throughout the body for regarding two hours. “DAP might represent the first molecule capable of bringing a therapeutic benefit to patients suffering from cystic fibrosis linked to a nonsense mutation and more broadly to patients suffering from a genetic disease linked to a nonsense mutation”, specifies Fabrice Lejeune.
Clinical trials must confirm the effectiveness of this molecule in humans. Until then, the researchers will test DAP in other genetic diseases, such as Duchenne muscular dystrophy and Rett syndrome.
