The subject of the review is on hereditary transthyretin (TTR) amyloidosis which is a genetically transmitted disease that
results from a mutation in the gene encoding the plasma TTR protein. TTR is a transport protein for thyroid hormones and vitamin A and
is predominantly synthesised in the liver. Although originally regarded as a rare disease, it is now becoming clear that many kindreds
exist worldwide. Current knowledge and hypotheses on the biology of TTR, mechanisms of TTR amyloid fibril formation, phenotypic
consequences TTR amyloid deposition and pre-clinical models of the disease will be discussed.
Keywords: Amyloidosis, cytotoxicity, fibrillogenesis, familial amyloidotic polyneuropathy, heat shock response, transthyretin (TTR), neurodegenerative diseases, hereditary transthyretin (TTR), plasma TTR protein, hypotheses
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