5.11 Genetics of Respiratory Disease
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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
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
What is the prevalence of α1-antitrypsin deficiency and its genetic basis?
- 70,000 affected (Mostly European decent)
- Homozygote Z allele
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
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
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
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
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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