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Cystic Fibrosis; Cystic Fibrosis Transmembrane conductance Regulator and mutation

This is the first video in the series of videos on cystic fibrosis and is focusing on its introduction, the structure of Cystic Fibrosis Transmembrane conductance Regulator protein, its mutations and effects on the body. The important concept needed to understand this re explained in the following videos. Protein Kinase A Part 1:    • The Fight or Flight Response; Protein...   Part 2:    • The Fight or Flight Response; Protein...   Part 3:    • The Fight or Flight Response (Part 3)...   Part 4:    • The Fight or Flight Response (Part 4)...   Part 5:    • The Fight or Flight Response (Part 5)...   Protein Kinase C Part 1:    • Protein Kinase C, Part 1; Introductio...   Part 2:    • Calcium and Calmodulin complex and Ca...   Ubiquitin Proteasome System    • Ubiquitin Proteasome System Explained...   Cystic fibrosis (CF) is an autosomal recessive genetic disorder that causes severe damage to the lungs, pancreas, liver and other organs in the body. CF affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene; Cystic Fibrosis Transmembrane conductance Regulator (CFTR) causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas The gene that encodes the human CFTR protein is found on chromosome 7, on the long arm at position q31 and the protein is made up of 1,480 amino acids. The CFTR protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. When the protein is not working correctly, chloride, a component of salt – becomes trapped in cells. Without the proper movement of chloride, water cannot hydrate the cellular surface. This leads the mucus covering the cells to become thick and sticky, causing many of the symptoms associated with cystic fibrosis. It arises from a mutation CFTR gene → three letter code disappears→ named delta-F508; Deletion of Phenylalanine (Phe, F) at amino acid position 508 in the CFTR gene This mutation is a class II mutation where abnormal processing occurs in the endoplasmic reticulum. This abnormal processing means that the Nucleotide Binding Domain 1 (NBD1) cannot bind ATP correctly. Subsequent signaling from ATP binding to open/close the Cl- channel does not occur and the cell renders the channel non-functional. The protein is then degraded via ubiquitin tagging, meaning there's a lack of CFTR protein on the epithelial surface, and this means that it can't pump chloride ions out, which means water doesn't get drawn in, and the secretions are left overly thick (Normal mucus is 97% water and 3% solids (mucins, non-mucin proteins, salts, lipids, and cellular debris).