AAT

Question 1

AAT Gene

Answer 1

12 kb single-copy gene on chromosome

Question 2

PiZZ serum AAT levels

Answer 2

3.0-5.8 uM

Question 3

Minimum effective AAT concentration for no loss of function pathology (goal for augmentation)

Answer 3

11 uM

Question 4

PiMM serum AAT levels

Answer 4

20-48 uM

Question 5

Location of primary neutrophil elastase activity

Answer 5

Lower respiratory tract

Question 6

Brantley mutation correction article

Answer 6

Repair of the Secretion Defect in the Z Form of A1AT by Addition of a Second Mutation
science, 1988

Reestablished salt link through modification of a 2nd residue in the A1AT molecule

Lys290—>Glu290 for
Glu290—Lys342 or GAA—AAG

Question 7

Start Codon

Answer 7

AUG Methionine (Met)

Question 8

Stop Codons

Answer 8

UAA
UAG
UGA

Question 9

Z mutation

Answer 9

Glu342—>Lys342
GAG—>AAG

Positively charged glutamic acid on beta sheet A strand 5 forms salt bridge with residue Lysine290 in beta sheet A strand 6

no charge balance

Causes loss of a normal salt bridge resulting in intracellular aggregation