Abstract
Human plasma transthyretin (TTR) can undergo conformational changes and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis. More than 100 TTR mutations have been associated with autosomal dominant amyloidosis, usually presenting with peripheral and autonomic neuropathy (Familial amyloidotic polyneuropathy (FAP)) and/or cardiomyopathy (Familial amyloidotic cardiomyopathy (FAC)). The mechanisms underlying cell death in TTR-related amyloidoses need to be addressed for the development of future therapies in FAP. These issues are the subject of this review.
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© 2009 Springer-Verlag Berlin Heidelberg
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Saraiva, M.J. (2009). Molecular Pathogenesis Associated with Familial Amyloidotic Polyneuropathy. In: Richardson, S.J., Cody, V. (eds) Recent Advances in Transthyretin Evolution, Structure and Biological Functions. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-00646-3_12
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DOI: https://doi.org/10.1007/978-3-642-00646-3_12
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