6 000 French are living with cystic fibrosis, a genetic disease that clogs the airways and causes digestive disorders. At the moment, without a lung transplant, life expectancy does not exceed 24 or even 25 years. The research work on the origins of this disease and ways to annihilate the highly disabling symptoms. Cystic fibrosis The CFTR is responsible for this disease. Figure Toony / GNU Free Documentation License 1 500 mutations in a gene identified Difficulties in breathing, weakness up front to infections.
The head? The CFTR gene, Cystic Fibrosis Transmembrane Conductance Regulator. This sequence of DNA code for CFTR, a substance responsible for rehydrate mucus and make it more fluid to facilitate sputum.
People with CF have an abnormal CFTR, unable to fulfil its role. Impact: mucus is too viscous to be eliminated by natural pathways such as coughing or by mouchant. Thus all the bacteria entering the airways can no longer be evacuated resulting in de facto serious infections.
Only genetic mutations respond to this dysfunction. Researchers have revealed no fewer than 1 500 different, hence more difficult to develop effective treatment.
A promising therapy protein
Two ways to combat the disease are being actively developed by scientists:
– Gene therapy where the mutated gene is replaced by a healthy CFTR via vectors. And the difficulty lies at this level: finding carriers able to target the target cells, while avoiding side effects, says the Virades of Hope.
– The protein therapy seeks to directly act on the CFTR abnormal and making it operational. In less than a year, two studies provide a glimmer of hope to patients.
Two drugs capable of reducing symptoms
In 2007, the team Aleksander Edelman, director of research at CNRS within the Unit Research Centre growth and signalling associated with Isabelle Semet-Gaudelus and the team of the Institute of Genetics and Microbiology at Paris 11, focused on the Y122X mutation. It is mainly present in the population Reunion. They found that patients who received during 15 days of an intravenous gentamicin, an antibiotic course, showed a marked improvement in breathing. Problem: treatment provokes heated side effects such as a kidney infection and deafness. The team is working on other molecules such as amikacin and PTC124.
The other good news comes from the U.S. and pharmaceutical company Vertex. On 31 March, he announced to the General Assembly of the American Foundation for cystic fibrosis the first positive results of the drug VX-770 on people with the mutation G551D. This product works on CFTR and active so that it fulfils its role. Twenty volunteers attended an oral treatment for 14 days. Result: better breathing and high levels of sodium chloride in the sweat. The experimentation continues.
Apr 26