Fig. 3

Analysis of amyloidosis deposits. The Congo-red stain on minor salivary gland biopsy (panel a) showed deposits localized around the acini and in the interstitium with an apple-green birefringence under polarized light (insert). Partial sequencing electropherogram showing the c.259 G>C in exon 3 of transthyretin, resulting in replacement of glycine with arginine at position 87 of the mature protein (Panel b), that is, p.Gly87Arg (Gly67Arg). Proteomic profile of the amyloid deposits using tandem mass spectrometry analysis identified transthyretin as the dominant amyloid protein (panel c). Transthyretin was associated with several proteins known to be associated with amyloid deposits such as serum amyloid P-component and apolipoprotein E. The protein sequence coverage shown in bold blue was 45%, and the mutated peptide is shown in bold red