Transthyretin Met 30 familial amyloid polyneuropathy in China. Usefulness of mass spectrometry for screening a variant TTR in serum

A clinical study and the analysis of transthyretin (TTR) abnormality were performed on a family with familial amyloid polyneuropathy (FAP) that had recently been found in China. Fourteen members over four generations were affected and their clinical pictures were consistent with those of type I FAP Using a matrix-assisted laser desorption ion-izatiod time- oS-flight mass spectrometry system, a TTR variant which possibly corresponded to Met 30 TTR was easily identified in the sera of patients and then, Met 30 TTR gene abnormality was confirmed on PCR-RFLP analysis. It is suggested that mass spectrometry system is a useful procedure for screening variant TTRs in the sera of large populations.