Author(s): Lacerda, Pedro C. ; Moreira, Luciana ; Vitorino, Rui ; Costa, Paulo P.
Date: 2015
Persistent ID: http://hdl.handle.net/10400.18/3295
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Hereditary Amyloidosis; ATTR Amyloidosis; TTR V30M; Mass Spectrometry; MALDI-TOF; Molecular biology; Transplantation surgery; Doenças Genéticas; Determinantes da Saúde e da Doença
Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver.
