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37 Cards in this Set
- Front
- Back
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What does PID stand for?
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Protease inhibitor deficiency
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common or rare?
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common
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moderate or sever?
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sever
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Associated with which disorders?
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COPD and liver cirrhosis
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Frequency?
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1/2500 whites, 120M people have risky genotypes, 1/2 of them could become affected
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MFD or SGD?
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SGD
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What is a Serpinopathy?
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serum protease inhibitor disease
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What does AAT stand for?
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Alpha antitrypsin
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Type of genotype?
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Autosomal incomplete dominant
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What are the two possible affected locus?
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AAT or Pi
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What did technicians notice?
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missing alpha 1 peak in correlation to emphysema
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Are carriers affected?
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yes, PID displays autosomal incomplete dominance
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What type of gene is it?
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A protease
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How many different alleles cause protease inhibitor deficiency?
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40 mutant alleles
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What is the penetrance of the mutants?
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80%
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AAT belongs to a family coding for what?
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enzymes that function as inhibitors of serine proteases
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What are examples of serine proteases?
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antithrombin 3, alpha 2 antiplasmin, and C1 inhibitor
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What organ makes Pi?
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Liver
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Where is Pi's reactive site?
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met358
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What make it different from normal emphysema?
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less frequent, younger onset, effects bottom of lungs
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What does emphysema mean?
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inflated tissue
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What causes difficulty in breathing?
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loss of elasticity in lung alveoli
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What happens to the Forced Expiratory Volume?
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it is decreased
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What happens to the capillaries?
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they are damaged
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What are the three main types of mutants?
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protease inhibitor deficient,null mutants, and changed substrate specificity
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What happens when your protease inhibitor deficient?
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mainly Pi Z, Pi accumulates in liver cells, causes emphysema and cirrhosis, lethal in childhood
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What happens to null mutants?
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do not produce mRNA or the inhibitor, causes only emphysema
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What happens when you change substrate specificity?
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inhibits thrombin, causes bleeder disease and emphysema
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What is the increased risk for emphysema in Pi ZZ?
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15 fold
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What is the increased risk for emphysema in Pi MZ?
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3 fold
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What is normal function of Pi?
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regulates elastase activity, controls amount of elastin
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What happens to ZZ babies?
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lethal liver cirrhosis
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Can liver cirrhosis be complicated by liver cancer?
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yes
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What can trigger/compound emphysema (and liver cirrhosis)?
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smokin, respiratory infection and work environment
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Is protein replacement therapy an option?
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yes, protein functions outside of the cell
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What is the prognosis?
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normal life expectancy with therapy
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Are GMO's useful?
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yes pure breeding sheep can produce 1/3 a pound of Pi per gallon of milk for protein replacement therapy. good enough for 20,000 people
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