Which type of amyloidosis is caused by mutations in transthyretin gene?: (A) Familial Mediterranean fever, (B) Familial amyloidosis polyneuropathy, (C) Dialysis associated amyloidosis, (D) Prion protein associated amyloidosis
Answer is B. Transthyretin (TTR) is a normal serum protein that binds and transpos thyroxine and retinol. Several distinct mutant forms of TTR (and its fragments) are deposited in a group of genetically determined disorders referred to as familial amyloid polyneuropathies. Normal TTR is also deposited (Due to overproduction) in the hea of aged individuals (senile systemic amyloidosis).