BIOLOGY 1A03 Lecture Notes - Lecture 2: Cystic Fibrosis, Human Genome Project, Francis Collins

69 views3 pages
10 Feb 2016
Department
Professor
Theme 1 Applied Lecture #2
“Understanding Cystic Fibrosis”
-Why does a protein fold inappropriately
-Because something went wrong at the nucleic level and at the protein level
-The airway of the trachea is enveloped by mass of mucus
-Can lead to bacterial infections influenced by inflammation
What is cystic fibrosis?
-The most common fatal genetic disease
-Many effects on the body, but mostly affects digestion and lungs
-Symptoms:
-Persistent cough
-Thick mucous production
-Wheezing, shortness of breath
-Chest infections or pneumonia
-Bowel disturbances (i.e obstruction)
-Salty “tasting” sweat
-With chronic persistence and bacterial infections, destruction of lung leads to
most prevalent cause of death
-Current life expectancy – 40 years
-Inherited by genes, in a recessive manner
-Carriers: 1 in 25 in Canada
-They don’t present symptoms of cystic fibrosis because they only each have 1
copy of the gene
-Can affect respiratory tract and even reproductive organs
-Everyone has a thin film of mucus in our body but cystic fibrosis people have
thick layer which is hard to clear from the lung which leads to a persistent
cough trying to clear the airways
-Overtime there is more wheezing due to narrowing of airways
-Bowel disturbances very common, they don’t have a thin mucus that would
help bowel material pass by
-Defect in proteins
-Current life expectancy in developed countries where treatment is available,
in under-developed age is about 25
-More denser mucus in the sinuses
-Lungs- instead of nice clear knotted airways, wider mucus with think layers of
mucus and now there is more mucus building up- green mucus: evidence of
bacteria present
-Intestines- a normal blockage that inhibits normal trasnsway of nutrients
-Males that have cystic fibrosis tend to be infertile; vast deferents gets clogged
up with thick layer of mucus
Endoscopy of normal airway
-Bronchoscopy
-Want to see if there is an excessive amount of mucus, is there blood in it, is it
green or yellow-ish, is it inflamed, is there excessive cappilaries
-Normal: cleared pathways
-Cystic fibrosis: prominent capillaries beds have a lot of mucus surrounding
them, a lot of inflammation, capillaries can basically burst and bleed
Mucus clearance is essential for respiratory health
-Goblet cells are always secreting mucus to line the insides of your body
-Cilia can only beat in an environment that is pretty much aqueous; cant beat in
the mucus layer, can only do in the water-y area
Unlock document

This preview shows page 1 of the document.
Unlock all 3 pages and 3 million more documents.

Already have an account? Log in

Get access

Grade+
$10 USD/m
Billed $120 USD annually
Homework Help
Class Notes
Textbook Notes
40 Verified Answers
Study Guides
1 Booster Class
Class+
$8 USD/m
Billed $96 USD annually
Homework Help
Class Notes
Textbook Notes
30 Verified Answers
Study Guides
1 Booster Class