CF and Alpha-1 AT def. Flashcards
Inheritance pattern of both Cystic Fibrosis and Alpha-1 Antitrypsin Deficiency.
Autosomal Recessive
Why are most males with CF sterile?
CF is linked to a congenital absence of the vas deferens
Most debilitating component of CF.
Lung component
-thick mucous secretions and very high rate of infection
Type of mutation that leads to CF
Deletion of Phenylalanine in position 508 in the CFTR gene
What are the two tests used to screen newborns for CF. (or parents to see if they are carriers)
PCR analysis
ASO hybridization
What type of enzyme is Alpha-1 Antitrypsin?
a.k.a. Alpha-1 antiprotease
Serine protease inhibitor
What is the function of A-1 AT?
Inhibits elastase that is secreted in the lungs preventing degradation of lung tissue.
What are the 3 alleles in the genes that code for A-1 AT?
M-normal
S-mutant (low functioning protein)
Z-mutant (no function at all)
Complication of ZZ heterozygotes.
Liver Disease
Why do smokers have worse progression of an A-1 AT deficiency?
They both function the same way leading to centrilobular emphysema. The imbalance of protease/antiprotease that is seen in the genetic disease is also a result of cigarette smoking.
What is the Alpha-1 AT Pittsburg variant and a common symptom?
The enzyme loses affinity for elastase and gains affinity for thrombin. The result is increased risk of bleeding.
