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

Lacerda, Pedro C.Moreira, LucianaVitorino, RuiCosta, Paulo P.2016-02-152016-02-152015-05Transplantation. 2015 May;99(5):e33-4. doi: 10.1097/TP.0000000000000658.0041-1337http://hdl.handle.net/10400.18/3295Familial 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.engHereditary AmyloidosisATTR AmyloidosisTTR V30MMass SpectrometryMALDI-TOFMolecular biologyTransplantation surgeryDoenças GenéticasDeterminantes da Saúde e da DoençaUse of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donorjournal article10.1097/TP.0000000000000658