Transcript Cystic Fibrosis and the Lungs

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