• View the progression pattern of TTR-FAP

  • Find out when to consider TTR-FAP and
    download the symptom checklist

  • Learn about diagnosis and
    patient management

TTR-FAP: A protein misfolding disease5,10

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TTR-FAP can occur when a person inherits a mutation in the transthyretin
(TTR) gene1,2

  • TTR is synthesized mainly in the liver and normally circulates as a tetramer of four folded-protein subunits called monomers5,10
  • Mutations in the TTR gene have been found to cause TTR-FAP5
  • Over 100 different mutations of the TTR gene have been reported. The most common
    is V30M5
  • Mutations alter the sequence of amino acids and produce variant monomers that destabilize the free tetramer10
  • Destabilization results in dissociation of the tetramer into folded monomers — which misfold and aggregate into amyloid fibrils5,10
  • Amyloid fibrils deposit in peripheral and autonomic nerve tissues, resulting in neurodegeneration and decline of neurologic function5,10
  • Amyloid fibril deposition results in a distal-to-proximal sensorimotor neuropathy with autonomic symptoms8,12