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Cystic Fibrosis and the Lungs By: Thomas Kupper 15 March 2006 Molecular Biology Cystic Fibrosis • One of the most common autosomalrecessive diseases. • First seen in newborn babies as: • • • • • Persistant diarrhea Frequent Pneumonia Chronic coughing Salty skin Poor Growth Genetic information about CF • From our work in lab this week the gene responsible for Cystic Fibrosis (CFTR) was determined to be at the location to be 7q31.2. • The gene that is encoded is 1480 proteins long with the mutation causing CF coming at the 508th amino acid location with the loss of phenylalanine Difference in the regular and mutated form of the protein The Lungs How the lungs work • The lungs work after receiving air by: – The air enters the nose or mouth where it is filtered, warmed, and moistened. – The air then travels down the throat and enters the trachea. – The air proceeds down the trachea, which branches into the left and right bronchi. – These two main stem bronchi continue to branch into smaller bronchi and they eventually branch into bronchioles. How the lungs work continued • After the air reaches the bronchioles: – The bronchioles end in sacs known as alveoli. They act as balloons that inflate when breathing in. – Gas exchange occurs at the alveoli. The concentration of oxygen is greater in the alveoli during inspiration then in the capillaries so the oxygen will diffuse across the alveolar walls and enter the blood plasma and carbon dioxide undergoes the opposite process. CF and the Lungs • The lungs when affected by CF have very thick mucous. • Unlike other parts of the body that it is unknown why the missing CFTR gene effects the lungs so greatly. • The mucous that builds up is able to hold bacteria so large amounts of bacteria begin to grow in the lungs. How CF interacts with the Lung • This thick mucous that gathers in the lungs then builds up on the bronchioles and decreases the surface area of the alveoli. • The bacteria that builds up in the mucous must be destroyed by the immune cells of the body. This presents a problem because the enzymes of the immune system can actually kill lung cells. Healthy and CF Lung References • Cystic Fibrosis Information: – http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromo some/cftr.shtml • Protein pictures – http://www.rcsb.org/pdb/cgi/explore.cgi?pid=79631006963574&page=0 &pdbId=1CKZ – http://www.rcsb.org/pdb/cgi/explore.cgi?pid=79631006963574&page=0 &pdbId=1CKY • Cystic Fibrosis Lung Information: – http://www.ygyh.org/cf/cause.htm – Lung Pictures • http://www.besttreatments.co.uk/btuk/conditions/6351.html • http://www.pseudomonas.com/cystic_fibrosis.html • Healthy Lung information: – http://webschoolsolutions.com/patts/systems/lungs.htm
