Cystic Fibrosis and the Lungs

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Cystic Fibrosis and the Lungs

• By Thomas Kupper
• 15 March 2006
• Molecular Biology

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Cystic Fibrosis

• One of the most common autosomal-recessive
  diseases.
• First seen in newborn babies as
• Persistant diarrhea
• Frequent Pneumonia
• Chronic coughing
• Salty skin
• Poor Growth

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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

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Difference in the regular and mutated form of the
protein
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The Lungs
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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.

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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.

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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.

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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.

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Healthy and CF Lung
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References

• Cystic Fibrosis Information
• http//www.ornl.gov/sci/techresources/Human_Genome
  /posters/chromosome/cftr.shtml
• Protein pictures
• http//www.rcsb.org/pdb/cgi/explore.cgi?pid796310
  06963574page0pdbId1CKZ
• http//www.rcsb.org/pdb/cgi/explore.cgi?pid796310
  06963574page0pdbId1CKY
• Cystic Fibrosis Lung Information
• http//www.ygyh.org/cf/cause.htm
• Lung Pictures
• http//www.besttreatments.co.uk/btuk/conditions/63
  51.html
• http//www.pseudomonas.com/cystic_fibrosis.html
• Healthy Lung information
• http//webschoolsolutions.com/patts/systems/lungs.
  htm