Exam 2 Biochem Flashcards Preview

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Flashcards in Exam 2 Biochem Deck (12):
1

Cystic fibrosis protein

CFTR
functions as Cl- channel
ABC family of membrane binding proteins

2

Cystic fibrosis mutation

most commonly F508 deletion
at nuclear binding domain 1 of protein

3

Dx of cystic fibrosis

PCR anaylsis (parent comparison)
ASO hydridization

4

Alpha-1-antitrypsin

serine protease inhibitor
made by macrophages and hepatocytes
protects against elastase

5

Absence of A1AT

emphysema from elastin degradation
increased with smoking
liver disease more severe

6

A1AT deficiency

autosomal recessive
increased in caucasians
S and Z mutant alleles cause disease

7

ZZ homozygous for A1AT

liver disease
aggregates in rER
cirrhosis develops

8

A1AT deficiency genetics

S causes E264V, decreased stability of protein
Z causes E342K, accumulation in liver

9

A1AT Pittsbury variant

pt mutation M358R
bleeding disorder
increased thrombin affinity, decreased elastase affinity

10

Screening CF for newborns

immunoreactive trypsinogen

11

CF bacteria

pseudomonas
S. aureus
causes bronchiectasis

12

Tx for cystic fibrosis

antibiotics
pancreatic enzymes + fat soluble vitamins
aerosol to loosen mucus