ABSTRACT
Familial amyloidotic polyneuropathy (FAP) is the common form of hereditary generalized amyloidosis and is characterized by the accumulation of amyloid fibrils in the peripheral nerves and other organs. Liver transplantation has been utilized as therapy for FAP, because the variant transthyretin (TTR) is predominantly synthesized by the liver, but this therapy is associated with several problems. The level of gene conversion was determined by real-time RCR combined with mutant-allele-specific amplification. Kren et al. reported that genomic and phenotypic changes that were induced by targeted gene repair were stable during an 18-month period, which suggests that the effect of targeted gene repair could be permanent and that this method might be effective for genomic TTR therapy. Gene therapy via fit-point method may therefore be a promising alternative to liver transplantation for treatment of FAP.
