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Updated: Jul 27 2019


  • Overview
    • Structure
      • rich in proline, lysine, glycine
        • unlike collagen, can exist in nonglycosylated forms
      • fibrillin protein binds to tropoelastin to form elastic fibers
        • Marfan's disease is caused by a defect in fibrillin
          • presentation
            • long extremities including fingers
            • scoliosis
            • myopia and lens dislocations
              • upward (like a martian leaving for outer space)
                • as opposed to a downward dislocation in homocystinuria
            • mitral valve prolapse
            • ↑ for aortic aneurism
    • Function
      • is an elastic protein
        • found in tissues where stretch is needed
          • lungs, dermis of the skin, large arteries, elastic ligaments, vocal cords, ligamenta flava of vertebrae
          • desmosine interchain cross linking between lysine residues gives the protein its elastic stretch
      • degraded by elastase
        • α1-antitrypsin normally inhibits elastase
          • class of protease inhibitors
          • synthesized in the liver
        • excess elastase activity caused by α1-antitrypsin (AAT) deficiency
          • absent α1-globulin peak in serum protein electrophoresis
          • autosomal codominant inheritence
          • presentation
            • panacinar emphysema
              • worsened by smoking
              • early onset
                • smoking without AAT deficiency usually causes centriacinar emphysema
            • cirrhosis
      • Clinical Significance
      • Disease
      • Comments
      • Marfan syndrome
      • Almost exclusively AD
      • Mutation in FBN gene
        • encodes fibrillin-1 gene on chromosome 15
      • Patients are susceptible to aortic disease, MVP, lens dislocation, scoliosis, pectus deformity, arachnodactyly
      • α1-antitrypsin deficiency
      • Autosomal codominant inheritence
      • α1-antitrypsin inhibits elastase
      • Can lead to panacinar emphysema and hepatic disease
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