5.11 Genetics of Respiratory Disease

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  1. What is the role of α1-antitrypsin in normal lungs?
    • Acute phase reactant - levels in the lung may increase 11 fold in response to inflammation
    • Provides 90% of the protection against elastolytic activity of neutrophil elastase
  2. What is the pathogenesis and presentation of lung disease in the absence of a1-antitrypsin?
    • Autosomal recessive disorder
    • Deficiency allele most common - M allele is normal
    • Z allele accounts for 95% of disease cases
  3. What is the prevalence of α1-antitrypsin deficiency and its genetic basis?
    • 70,000 affected (Mostly European decent)
    • Homozygote Z allele
  4. Define the term conformational disease and explain how it applies to α1-antitrypsin deficiency
    Where the allele alters confirmational stability of the protein in the absence of protease cleavage
  5. What is the prevalence of cystic fibrosis and its genetic basis?
    • Most common fatal autosomal genetic disorder of whites
    • 1000 new cases/ year
    • Mutations in the cystic fibrosis transmembrane conductance regulator cause CF
  6. What is the role of CFTR in normal tissues?
    • ATP binding cassette (ABC) transporter of Cl- and regulator of other channels
    • Regulated via cAMP and ATP hydrolysis
  7. What is the pathogenesis and presentation of disease in the absence of CFTR?
    • CFTR will activate epithelial Na+ channels inf pts w/ CF due to low Na+ influx
    • Obstructive azoospermia
    • Idiopathic pancreatitis
    • Disseminated bronchiectasis
    • Allergic pulmonary aspergillosis
    • Atypical sinopulmonary disease
    • Asthma
  8. What are the goals of genetic testing?
    • Detect the presence of only those mutations that are known to result in compromised protein functions in the context of a given disease based on lab studies
    • Reserved only for individuals w/in families where the presence of disease is clear or for individuals who display several signs of a specific disease
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5.11 Genetics of Respiratory Disease
2014-02-08 00:02:48
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