Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.

Maria João Mascarenhas Saraiva

Journal: Expert reviews in molecular medicine 2007;4(12):1-11

PMID: 14987380

Full Text on Cambridge University Press View on PubMed

Abstract

Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system. However, TTR can undergo a conformational change and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis. More than 80 TTR mutations have been associated with autosomal dominant amyloidosis, usually presenting with peripheral and autonomic neuropathy and/or cardiomyopathy. Major areas of research in TTR amyloidosis include: molecular mechanisms leading to fibril formation; mechanisms of fibril-induced cell death; modulators of phenotypic expression of the disease; and therapeutic strategies.

Address: Amyloid Unit, Institute for Cellular and Molecular Biology, University of Porto, R. Campo Alegre, 823. 4150-180 Porto, Portugal. [email protected]

DOI: 10.1017/S1462399402004647

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MeSH Terms: Amyloid, Amyloidosis, Familial, Cell Death, Dimerization, Drug Therapy, Genetic Predisposition to Disease, Genetic Therapy, Humans, Liver Transplantation, Models, Molecular, Mutation, Phenotype, Prealbumin, Protein Conformation