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 w ere performed on a family with familial amyloid polyneuropathy (FAP) t hat had recently been found in China. Fourteen members over four gener ations were affected and their clinical pictures were consistent with those of type I FAP. Using a matrix-assisted laser desorption ionizati on/time-of-flight mass spectrometry system, a TTR variant which possib ly corresponded to Met 30 TTR was easily identified in the sera of pat ients and then, Met 30 TTR gene abnormality was confirmed on PCR-RFLP analysis. It is suggested that mass spectrometry system is a useful pr ocedure for screening variant TTRs in the sera of large populations.