Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor

Lacerda, Pedro C.; Moreira, Luciana; Vitorino, Rui; Costa, Paulo P.

http://hdl.handle.net/10400.18/3295

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Abstract(s)

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.

Keywords

Hereditary Amyloidosis ATTR Amyloidosis TTR V30M Mass Spectrometry MALDI-TOF Molecular biology Transplantation surgery Doenças Genéticas Determinantes da Saúde e da Doença