ABSTRACT
Transthyretin associated hereditary amyloidosis is an inherited disease in which mutations in the primary structure of transthyretin (TTR, prealbumin) lead to the extracellular polymerization of insoluble protein fibrils resulting in organ failure and ultimately death. This chapter provides an integrated approach to characterize the TTR gene and protein in which the initial assay is the analysis of intact plasma TTR by ESI mass spectrometry. Positives are reflexed for DNA sequence analysis while real-time PCR confirms polymorphisms. The chapter presents the protein analysis and genomic analysis of samples from patients diagnosed with amyloid and polyneuropathy.
