A TRANSTHYRETIN MUTATION (V32A) IN AN ISRAELI PATIENT WITH AMYLOIDOTIC NEUROPATHY LOCALIZES TO A 3D MUTATION CLUSTER

摘要

Transthyretin (TTR) is a plasma and cerebral fluid protein synthesized by the liver that serves as carrier for thyroxin and retinol binding protein via separate binding sites. In its native form TTR is a 127 homotetramer Transthyretin amyloidosis (ATTR) is a progressive disease that is caused by the deposition of transthyretin in in body tissues and it usually manifests with peripheral neuropathy, autonomic dysfunction and/or cardiomyopathy. Apart from a senile form, in which the deposited TTR is normal, most ATTR cases are caused by a mutation in the transthyretin coding region and are inherited dominantly. These are termed familial amyloidotic neuropathies (FAP) and their rate varies word wide.