What causes transthyretin amyloidosis?
Transthyretin amyloidosis is caused by mutations in the protein. A mutation occurs when the position of one amino acid in the protein chain is replaced by a different amino acid. This causes a structural change in the protein molecule, and the protein then has a tendency to deposit in the tissues. The protein that actually deposits in the tissues has changed its structure so that aggregation of many protein molecules makes fibrils (β-fibrils) which are very resistant to being dissolved or degraded by normal body functions. • Who gets transthyretin amyloidosis? Transthyretin amyloidosis is an hereditary disease. A mutation in the gene for transthyretin protein is passed from one generation to another. It is an autosomal dominant disease which means that both men and women get the disease and that only one copy of the mutated gene is required to cause the disease. An individual with a mutant form of transthyretin may have obtained the genetic trait from either their mother or father and
