Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
Over 80 different disease-causing mutations in transthyretin (TTR) have been reported. The vast majority are inherited in an autosomal dominant manner and are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart. A small portion of TTR mutations are apparently non-amyloidogenic. Among these are mutations responsible for hyperthyroxinemia, presenting high affinity for thyroxine (a TTR ligand). Compound heterozygotic individuals for TTR mutants have been described; noteworthy is the clinically protective effect exerted by a non-pathogenic over a pathogenic mutation. Current TTR mutations and their significance are briefly reviewed here.
Saraiva
M J
MJ
Amyloid Unit, Institute for Molecular and Cellular Biology and Instituto de Ciências Biomédicas, Universidade do Porto, Porto, Portugal. mjsaraiv@ibmc.up.pt
D000682:Amyloid / Q000235:genetics; D017772:Amyloid Neuropathies / Q000235:genetics*; D006801:Humans; D006981:Hyperthyroxinemia / Q000235:genetics*; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
D000682:Amyloid; D011228:Prealbumin