ABSTRACT
In the peripheral nervous system of familial amyloid polyneuropathy (FAP) patients, transthyretin (TTR) aggregates and fibrils occur extracellularly; in latter stages of disease progression, nerves present complete axonal loss and endoneurial contents are replaced by amyloid, collagen, Schwann cells and fibroblasts. This chapter investigates differentially expressed genes related to extracellular matrix remodelling in salivary gland (SG) biopsies aiming at further elucidating the molecular effects of TTR deposition in FAP. SG biopsies are a sensitive means to investigate molecular events related to TTR deposition during the pathogenesis of FAP; the genes found differentially expressed in FAP SG biopsies were also altered in the nerve. Biglycan has been reported in other amyloid deposits such as AA amyloidosis and light-chain deposition. The observation that biglycan is also associated with TTR fibrils emphasizes the importance of this proteoglycan in amyloid disorders.
