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Updated: May 23, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transthyretin deposition in familial amyloidotic polyneuropathy
M J Saraiva1, J Magalhaes, N Ferreira
1Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal. mjsaraiv@ibmc.up.pt
Abstract:
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.
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