CF Lecture - Nov 2007 BIOL 1510 - bw

CF Lecture - Nov 2007 BIOL 1510 - bw - Cystic Fibrosis...

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Most common lethal autosomal recessive disease among US Caucasians Affects approximately 1:2,750 Caucasian live births in the U.S. Affects ~30,000 individuals in the United States. Affects ~60,000 individuals worldwide. Incidence: Cystic Fibrosis Basics Caucasian: 1:2,750 African-American: 1:15,300 Asian: 1:32,100 Native American; 1:11,200 Hispanic: 1:9,500 European Folklore: salty skin predicts early demise. 1650: meconium ileus, and lung and pancreatic disease. Dorothy Anderson, 1938: “Cystic Fibrosis of the Pancreas” 1945: general exocrinopathy; “mucoviscidosis” Paul di Sant’ Agnese. 1953: high sweat [Na] and [Cl], now used as diagnostic CF Basics: Early Descriptions
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Pancreatic insufficiency in 85% of patients Meconium ileus in 5-10% of newborns Liver disease in 2-5% of newborns, now frequent in older adults CF-related diabetes, due to degradation of pancreas through time Infertility frequent in both males and females Respiratory disease Mucous obstruction and infection of conducting airways Pseudomonas aeruginosa in 61% of cultures Staphylococcus aureus in 41% of cultures Bronchiectatic cysts and peribronchial fibrosis Usually fatal by age 37 yrs. CF Basics: Clinical Complications Tissues impacted by CF: Others? CFTR expressed in many tissues. Cystic Fibrosis Gene Messenger RNA CFTR Protein CFTR Protein in Cell Membrane CFTR gene found by positional cloning • The CFTR gene was cloned in 1989, using positional cloning techniques. It spans over 250 kb of DNA.
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This note was uploaded on 04/07/2008 for the course BIO 1510 taught by Professor Unknown during the Fall '07 term at Georgia Tech.

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CF Lecture - Nov 2007 BIOL 1510 - bw - Cystic Fibrosis...

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