20 September 2018

Cystic fibrosis: preparation for the onset

Russian scientists have begun work on correcting mutations in the genes of patients with cystic fibrosis

Specialists with the help of cell reprogramming methods correct the mutation in them

tass

Experts of the Medical and Genetic Research Center of the Ministry of Science and Higher Education of the Russian Federation have begun conducting experiments with stem cells of patients suffering from cystic fibrosis. This was reported to TASS on Wednesday by the acting head of the mutagenesis laboratory "MGNC" Svetlana Smirnikhina.

"We received skin epithelial cells from patients over the age of 18, these are patients with the most common of the most severe mutations," Smirnikhina said. She explained that with the help of special methods of reprogramming cells, scientists correct the mutation in them. Experiments are carried out using modifications developed directly in the laboratory of the Russian center.

Smirnikhina added that there is no effective and affordable pathogenetic treatment aimed at blocking the development of disease mechanisms. "The life expectancy of patients with severe genetic mutations often does not exceed 25 years," she noted.

In addition, Smirnikhina clarified that the analysis of the results of the experiment will take about a month, but it will take at least six months to conduct a cycle of independent experiments. Scientists aim to further select patients with other mutations in genes for subsequent genome editing experiments in human stem cells.

Cystic fibrosis is a serious lung disease that manifests itself in childhood. It is caused by a genetic mutation, due to which the mucus covering the inner surface of the lungs and pancreas becomes viscous and ceases to be excreted from the body. This process leads to the proliferation of bacteria, as a result of which the patient constantly suffers from lung infections and experiences suffocation.

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