Transthyretin (TTR) amyloidosis is a systemic disorder characterized by the extracellular deposition of amyloid fibrils composed of TTR, a plasma transport protein for thyroxine and vitamin A that is produced predominantly by the liver. TTR can dissociate from its native tetramer form, then misfold and aggregate into amyloid fibrils that accumulate in various organs and tissues, causing progressive dysfunction. TTR amyloidosis is the most common form of hereditary (familial) amyloidosis, and is caused by mutations that destabilize the TTR protein. TTR amyloidosis also encompasses an age-related amyloidosis known as senile systemic amyloidosis, an acquired disorder mainly affecting men after the age of 60 years, that results from the deposition of wild-type TTR amyloid.
Friday, April 05, 2013
Transthyretin amyloidosis: an under appreciated entity
From the review: