C for T substitution at codon 108: the first identified silent mutation in the transthyretin gene

Transthyretin (TTR) is a 55kDa tetrameric protein synthesized by the liver and the choroid plexus that binds thyroxine and retinol-binding protein. More than fifty mutations have been identified in the TTR gene, the majority of them associated with hereditary amyloidosis1. This study reveals the first silent mutation on the TTR gene : Ala108.