A new American study revealed the secrets of mutations that affect the gene that causes treatment for treatment -resistant cystic fibrosis, in a step that gives hope to discover new treatments for patients who do not respond to the available drugs.
The study was conducted by researchers from the Medical Center of the University of Vanderbelt in the United States, and its results were published in the Journal of the National Academy of Sciences (Proceds of the National Academy of Sciences) last April, and was written by the Yurrick Alrt.
The breathing process is a natural and essential process by most people without thinking, but it may be a very difficult process for cystic fibrosis patients. Cycular fibrosis – a genetic disease – occurs as a result of the occurrence of mutations in the gene that makes the cystic fibrosis protein protein (CFTR), and proteins are precise machines that perform specific functions inside the cell, and the instructions for making each protein in the acid is Nuclear in the form of genes, and these instructions define any amino acid that should be used in every place within the chain to make a specific protein.
The mechanical connection regulator of cystic fibrosis is an ionic canal found in the epithelial cells that lined most parts of the respiratory system. The channel’s protein consists of 5 domains: two transient membrane range, two nucleotides connection, and an organizational range. The nucleotides are linked to the carrier supply with energy.
The ionic channels transmit the atoms or molecules electrically charged from inside the cell to the outside, or from outside the cell to it. In the lung, the membranes of the ionic fibrosis of chloride ions transmits from inside the cell outside.
The mutations in the regulator of the mechanical connection of cystic fibrosis lead to a lack of transportation of ions in the pulmonary epithelial cells, an imbalance in the cilia movement responsible for the transfer of mucus, mucus accumulation, infection, and in the end death.
The mucus in the lungs is usually thin and slippery, but the mucus of cystic fibrosis patients is thick and sticky, which blocks the airways and makes it difficult for breathing, and is similar to suffering with cystic fibrosis suffering from the worst seasonal sensitivity that a person can suffer from.
Convincing protein to respond to the drug
Although cystic fibrosis is still fatal, the quality of the life of many patients may improve thanks to the revolutionary drugs that the US Food and Drug Administration has agreed in recent years. Although all of these treatments target the regulator of cystic fibrosis, most patients do not respond well to these medications.
The study analyzed both mutations in the respondents selectively and weakly responding, and revealed the molecular determinants of the response to the drug.
The variables of the membranous connection regulator of cystic fibrosis are widely classified as 3 categories, the first category is variables representing channels that do not work, and the second category are variables in which the channels are incorrectly folded, and the third category and are variables in which the doors of the channels do not open properly.
Despite the appearance of revolutionary corrected compounds to treat cystic fibrosis, 10% of people with the disease are still without therapeutic options, and about 3% of the total of people with the second -class mutations carry weak response.
Computational structural modeling has shown that one of the corrected failed to provide adequate stability for the scope of nucleotides 1 in patients with weak response. The study revealed structural weaknesses within the scope of the connection of Nucleutids 1 that should be targeted to treat these conditions.
The study provides a framework for understanding the defects inherent in controlling protein quality and structural defects in the variables of the mechanical connection of cystic fibrosis that do not respond to current treatments, which contributes to the expansion of therapeutic options to include all targeted variables.