Amyloids are proteins that misfold and aggregate. These misfolded proteins are associated with more than 20 human diseases which can cause damage to organs. Amyloid can affect any organ in the body, including the brain and peripheral organs. For example, the misfolding and aggregation of the amyloid beta (Aβ) peptide leads to a build-up of amyloid protein in the brain, which most scientists believe is the primary cause of Alzheimer’s disease. Collectively, the complex group of diseases caused by tissue deposition of misfolded proteins that result in progressive organ damage are known as systemic amyloidoses.
Transthyretin amyloidosis (ATTR amyloidosis) is a rare, progressive and often fatal disease characterized by deposition of aggregates of misfolded transthyretin protein. There are three types of ATTR amyloidosis: hereditary ATTR with cardiomyopathy (hATTR-CM); hereditary ATTR with polyneuropathy (hATTR-PN); and wild-type ATTR (wtATTR) which occurs sporadically and also involves cardiomyopathy. The TTR protein is produced primarily in the liver and in its normal tetrameric form serves as a carrier for thyroxin and vitamin A.
For more information on amyloidosis, please visit the websites of the Amyloidosis Support Groups, The Amyloidosis Research Consortium, and the Amyloidosis Foundation.